Canonical Allele Identifier: CA370434569

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18075540C>T , CM000670.2:g.18075540C>T	GRCh38
NC_000008.10:g.17933049C>T , CM000670.1:g.17933049C>T	GRCh37
NC_000008.9:g.17977329C>T	NCBI36
NG_008985.1:g.14459G>A
NG_008985.2:g.14459G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.125+1G>A MANE Select	NP_808592.2:n.125+1G>A
ENST00000637790.2:c.125+1G>A MANE Select	ENSP00000490272.1:n.125+1G>A
NM_001127505.1:c.173+1G>A	NP_001120977.1:n.173+1G>A
NM_001127505.2:c.173+1G>A	NP_001120977.1:n.173+1G>A
NM_001127505.3:c.173+1G>A	NP_001120977.1:n.173+1G>A
NM_001363743.1:c.-71+1G>A	NP_001350672.1:n.-71+1G>A
NM_001363743.2:c.-71+1G>A	NP_001350672.1:n.-71+1G>A
NM_004315.4:c.173+1G>A	NP_004306.3:n.173+1G>A
NM_004315.5:c.173+1G>A	NP_004306.3:n.173+1G>A
NM_004315.6:c.173+1G>A	NP_004306.3:n.173+1G>A
NM_177924.3:c.125+1G>A	NP_808592.2:n.125+1G>A
NM_177924.4:c.125+1G>A	NP_808592.2:n.125+1G>A
ENST00000262097.10:c.125+1G>A	ENSP00000262097.6:n.125+1G>A
ENST00000314146.10:c.173+1G>A	ENSP00000326970.10:n.173+1G>A
ENST00000381733.8:c.173+1G>A	ENSP00000371152.4:n.173+1G>A
ENST00000381733.9:c.173+1G>A	ENSP00000371152.4:n.173+1G>A
ENST00000518087.6:n.173+1G>A
ENST00000518087.7:c.189+1G>A	ENSP00000490753.1:n.189+1G>A
ENST00000519468.5:n.131+1G>A
ENST00000519545.5:n.139+1G>A
ENST00000519545.6:n.142+1G>A
ENST00000520051.1:n.711+1G>A
ENST00000520781.5:c.125+1G>A	ENSP00000427751.1:n.125+1G>A
ENST00000520781.6:c.125+1G>A	ENSP00000427751.1:n.125+1G>A
ENST00000523593.5:n.156+1G>A
ENST00000523593.6:c.118+1G>A	ENSP00000490700.1:n.118+1G>A
ENST00000635769.1:c.125+1G>A	ENSP00000490485.1:n.125+1G>A
ENST00000635944.1:c.189+1G>A	ENSP00000490195.1:n.189+1G>A
ENST00000635998.1:c.125+1G>A	ENSP00000490506.1:n.125+1G>A
ENST00000636009.1:c.57+1G>A	ENSP00000489988.1:n.57+1G>A
ENST00000636033.1:c.207+1G>A	ENSP00000489617.1:n.207+1G>A
ENST00000636050.1:c.262+1G>A	ENSP00000490562.1:n.262+1G>A
ENST00000636128.1:c.125+1G>A	ENSP00000489789.1:n.125+1G>A
ENST00000636160.1:c.125+1G>A	ENSP00000489651.1:n.125+1G>A
ENST00000636171.1:c.125+1G>A	ENSP00000489761.1:n.125+1G>A
ENST00000636269.1:c.-71+1G>A	ENSP00000490738.1:n.-71+1G>A
ENST00000636299.1:c.173+1G>A	ENSP00000490202.1:n.173+1G>A
ENST00000636435.1:n.209+1G>A
ENST00000636455.1:c.173+1G>A	ENSP00000490502.1:n.173+1G>A
ENST00000636494.1:c.125+1G>A	ENSP00000490388.1:n.125+1G>A
ENST00000636537.1:c.173+1G>A	ENSP00000489914.1:n.173+1G>A
ENST00000636577.1:c.125+1G>A	ENSP00000490027.1:n.125+1G>A
ENST00000636691.1:c.-71+1G>A	ENSP00000490725.1:n.-71+1G>A
ENST00000636701.1:c.125+1G>A	ENSP00000489800.1:n.125+1G>A
ENST00000636715.1:c.173+1G>A	ENSP00000490876.1:n.173+1G>A
ENST00000636815.1:c.133+1G>A
ENST00000636823.1:c.-71+1G>A	ENSP00000490798.1:n.-71+1G>A
ENST00000636828.1:n.301+1G>A
ENST00000636920.1:c.165+1G>A	ENSP00000490437.1:n.165+1G>A
ENST00000636997.1:c.125+1G>A	ENSP00000490093.1:n.125+1G>A
ENST00000637013.1:c.*337+1G>A	ENSP00000490596.1:n.*337+1G>A
ENST00000637095.1:c.125+1G>A	ENSP00000490415.1:n.125+1G>A
ENST00000637202.1:c.125+1G>A	ENSP00000490129.1:n.125+1G>A
ENST00000637244.1:c.*643+1G>A	ENSP00000490188.1:n.*643+1G>A
ENST00000637429.1:c.*337+1G>A	ENSP00000490522.1:n.*337+1G>A
ENST00000637484.1:c.*162+1G>A	ENSP00000490837.1:n.*162+1G>A
ENST00000637528.1:c.125+1G>A	ENSP00000490801.1:n.125+1G>A
ENST00000637536.1:c.479+1G>A	ENSP00000490464.1:n.479+1G>A
ENST00000637561.1:c.125+1G>A	ENSP00000490536.1:n.125+1G>A
ENST00000637603.1:c.125+1G>A	ENSP00000489979.1:n.125+1G>A
ENST00000637609.1:n.158+1G>A
ENST00000637636.1:c.125+1G>A	ENSP00000490112.1:n.125+1G>A
ENST00000637638.1:c.125+1G>A	ENSP00000490774.1:n.125+1G>A
ENST00000637718.1:c.-71+1G>A	ENSP00000490133.1:n.-71+1G>A
ENST00000637792.1:c.173+1G>A	ENSP00000490423.1:n.173+1G>A
ENST00000637805.1:c.177+1G>A	ENSP00000489884.1:n.177+1G>A
ENST00000637872.1:c.-71+1G>A	ENSP00000490432.1:n.-71+1G>A
ENST00000637898.1:n.155+1G>A
ENST00000637922.1:c.-71+1G>A	ENSP00000490071.1:n.-71+1G>A
ENST00000637946.1:c.*574+1G>A	ENSP00000490025.1:n.*574+1G>A
ENST00000637991.1:c.173+1G>A	ENSP00000489901.1:n.173+1G>A
ENST00000638069.1:n.181+1G>A
XM_005273504.2:c.59+1G>A	XP_005273561.1:n.59+1G>A
XM_005273504.3:c.59+1G>A	XP_005273561.1:n.59+1G>A