Canonical Allele Identifier: CA370434583

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18075548C>A , CM000670.2:g.18075548C>A	GRCh38
NC_000008.10:g.17933057C>A , CM000670.1:g.17933057C>A	GRCh37
NC_000008.9:g.17977337C>A	NCBI36
NG_008985.1:g.14451G>T
NG_008985.2:g.14451G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.118G>T MANE Select	NP_808592.2:p.Gly40Ter
ENST00000637790.2:c.118G>T MANE Select	ENSP00000490272.1:p.Gly40Ter
NM_001127505.1:c.166G>T	NP_001120977.1:p.Gly56Ter
NM_001127505.2:c.166G>T	NP_001120977.1:p.Gly56Ter
NM_001127505.3:c.166G>T	NP_001120977.1:p.Gly56Ter
NM_001363743.1:c.-78G>T	NP_001350672.1:n.-78G>T
NM_001363743.2:c.-78G>T	NP_001350672.1:n.-78G>T
NM_004315.4:c.166G>T	NP_004306.3:p.Gly56Ter
NM_004315.5:c.166G>T	NP_004306.3:p.Gly56Ter
NM_004315.6:c.166G>T	NP_004306.3:p.Gly56Ter
NM_177924.3:c.118G>T	NP_808592.2:p.Gly40Ter
NM_177924.4:c.118G>T	NP_808592.2:p.Gly40Ter
ENST00000262097.10:c.118G>T	ENSP00000262097.6:p.Gly40Ter
ENST00000314146.10:c.166G>T	ENSP00000326970.10:p.Gly56Ter
ENST00000381733.8:c.166G>T	ENSP00000371152.4:p.Gly56Ter
ENST00000381733.9:c.166G>T	ENSP00000371152.4:p.Gly56Ter
ENST00000518087.6:n.166G>T
ENST00000518087.7:c.182G>T	ENSP00000490753.1:p.Arg61Met
ENST00000519468.5:n.124G>T
ENST00000519545.5:n.132G>T
ENST00000519545.6:n.135G>T
ENST00000520051.1:n.704G>T
ENST00000520781.5:c.118G>T	ENSP00000427751.1:p.Gly40Ter
ENST00000520781.6:c.118G>T	ENSP00000427751.1:p.Gly40Ter
ENST00000523593.5:n.149G>T
ENST00000523593.6:c.111G>T	ENSP00000490700.1:p.Gln37His
ENST00000635769.1:c.118G>T	ENSP00000490485.1:p.Gly40Ter
ENST00000635944.1:c.182G>T	ENSP00000490195.1:p.Arg61Met
ENST00000635998.1:c.118G>T	ENSP00000490506.1:p.Gly40Ter
ENST00000636009.1:c.50G>T	ENSP00000489988.1:p.Arg17Met
ENST00000636033.1:c.200G>T	ENSP00000489617.1:p.Arg67Met
ENST00000636050.1:c.255G>T	ENSP00000490562.1:p.Gln85His
ENST00000636128.1:c.118G>T	ENSP00000489789.1:p.Gly40Ter
ENST00000636160.1:c.118G>T	ENSP00000489651.1:p.Gly40Ter
ENST00000636171.1:c.118G>T	ENSP00000489761.1:p.Gly40Ter
ENST00000636269.1:c.-78G>T	ENSP00000490738.1:n.-78G>T
ENST00000636299.1:c.166G>T	ENSP00000490202.1:p.Gly56Ter
ENST00000636435.1:n.202G>T
ENST00000636455.1:c.166G>T	ENSP00000490502.1:p.Gly56Ter
ENST00000636494.1:c.118G>T	ENSP00000490388.1:p.Gly40Ter
ENST00000636537.1:c.166G>T	ENSP00000489914.1:p.Gly56Ter
ENST00000636577.1:c.118G>T	ENSP00000490027.1:p.Gly40Ter
ENST00000636691.1:c.-78G>T	ENSP00000490725.1:n.-78G>T
ENST00000636701.1:c.118G>T	ENSP00000489800.1:p.Gly40Ter
ENST00000636715.1:c.166G>T	ENSP00000490876.1:p.Gly56Ter
ENST00000636815.1:c.126G>T
ENST00000636823.1:c.-78G>T	ENSP00000490798.1:n.-78G>T
ENST00000636828.1:n.294G>T
ENST00000636920.1:c.158G>T	ENSP00000490437.1:p.Arg53Met
ENST00000636997.1:c.118G>T	ENSP00000490093.1:p.Gly40Ter
ENST00000637013.1:c.*330G>T	ENSP00000490596.1:n.*330G>T
ENST00000637095.1:c.118G>T	ENSP00000490415.1:p.Gly40Ter
ENST00000637202.1:c.118G>T	ENSP00000490129.1:p.Gly40Ter
ENST00000637244.1:c.*636G>T	ENSP00000490188.1:n.*636G>T
ENST00000637429.1:c.*330G>T	ENSP00000490522.1:n.*330G>T
ENST00000637484.1:c.*155G>T	ENSP00000490837.1:n.*155G>T
ENST00000637528.1:c.118G>T	ENSP00000490801.1:p.Gly40Ter
ENST00000637536.1:c.472G>T	ENSP00000490464.1:p.Gly158Ter
ENST00000637561.1:c.118G>T	ENSP00000490536.1:p.Gly40Ter
ENST00000637603.1:c.118G>T	ENSP00000489979.1:p.Gly40Ter
ENST00000637609.1:n.151G>T
ENST00000637636.1:c.118G>T	ENSP00000490112.1:p.Gly40Ter
ENST00000637638.1:c.118G>T	ENSP00000490774.1:p.Gly40Ter
ENST00000637718.1:c.-78G>T	ENSP00000490133.1:n.-78G>T
ENST00000637792.1:c.166G>T	ENSP00000490423.1:p.Gly56Ter
ENST00000637805.1:c.170G>T	ENSP00000489884.1:p.Arg57Met
ENST00000637872.1:c.-78G>T	ENSP00000490432.1:n.-78G>T
ENST00000637898.1:n.148G>T
ENST00000637922.1:c.-78G>T	ENSP00000490071.1:n.-78G>T
ENST00000637946.1:c.*567G>T	ENSP00000490025.1:n.*567G>T
ENST00000637991.1:c.166G>T	ENSP00000489901.1:p.Gly56Ter
ENST00000638069.1:n.174G>T
XM_005273504.2:c.52G>T	XP_005273561.1:p.Gly18Ter
XM_005273504.3:c.52G>T	XP_005273561.1:p.Gly18Ter