Canonical Allele Identifier: CA4650990

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18071330C>T , CM000670.2:g.18071330C>T	GRCh38
NC_000008.10:g.17928839C>T , CM000670.1:g.17928839C>T	GRCh37
NC_000008.9:g.17973119C>T	NCBI36
NG_008985.1:g.18669G>A
NG_008985.2:g.18669G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.186G>A MANE Select	NP_808592.2:p.Trp62Ter
ENST00000637790.2:c.186G>A MANE Select	ENSP00000490272.1:p.Trp62Ter
NM_001127505.1:c.255G>A	NP_001120977.1:p.Trp85Ter
NM_001127505.2:c.255G>A	NP_001120977.1:p.Trp85Ter
NM_001127505.3:c.255G>A	NP_001120977.1:p.Trp85Ter
NM_001363743.1:c.-10G>A	NP_001350672.1:n.-10G>A
NM_001363743.2:c.-10G>A	NP_001350672.1:n.-10G>A
NM_004315.4:c.234G>A	NP_004306.3:p.Trp78Ter
NM_004315.5:c.234G>A	NP_004306.3:p.Trp78Ter
NM_004315.6:c.234G>A	NP_004306.3:p.Trp78Ter
NM_177924.3:c.186G>A	NP_808592.2:p.Trp62Ter
NM_177924.4:c.186G>A	NP_808592.2:p.Trp62Ter
ENST00000262097.10:c.186G>A	ENSP00000262097.6:p.Trp62Ter
ENST00000314146.10:c.255G>A	ENSP00000326970.10:p.Trp85Ter
ENST00000381733.8:c.234G>A	ENSP00000371152.4:p.Trp78Ter
ENST00000381733.9:c.234G>A	ENSP00000371152.4:p.Trp78Ter
ENST00000518087.6:n.234G>A
ENST00000518087.7:c.*22G>A	ENSP00000490753.1:n.*22G>A
ENST00000519468.5:n.192G>A
ENST00000519545.5:n.200G>A
ENST00000519545.6:n.203G>A
ENST00000520051.1:n.772G>A
ENST00000520781.5:c.186G>A	ENSP00000427751.1:p.Trp62Ter
ENST00000520781.6:c.186G>A	ENSP00000427751.1:p.Trp62Ter
ENST00000523593.5:n.157-4032G>A
ENST00000523593.6:c.*29G>A	ENSP00000490700.1:n.*29G>A
ENST00000635769.1:c.207G>A	ENSP00000490485.1:p.Trp69Ter
ENST00000635944.1:c.*22G>A	ENSP00000490195.1:n.*22G>A
ENST00000635998.1:c.186G>A	ENSP00000490506.1:p.Trp62Ter
ENST00000636009.1:c.118G>A	ENSP00000489988.1:n.118G>A
ENST00000636033.1:c.*22G>A	ENSP00000489617.1:n.*22G>A
ENST00000636050.1:c.*29G>A	ENSP00000490562.1:n.*29G>A
ENST00000636128.1:c.186G>A	ENSP00000489789.1:p.Trp62Ter
ENST00000636160.1:c.*78G>A	ENSP00000489651.1:n.*78G>A
ENST00000636171.1:c.186G>A	ENSP00000489761.1:p.Trp62Ter
ENST00000636269.1:c.-10G>A	ENSP00000490738.1:n.-10G>A
ENST00000636299.1:c.174-1458G>A	ENSP00000490202.1:n.174-1458G>A
ENST00000636435.1:n.270G>A
ENST00000636455.1:c.234G>A	ENSP00000490502.1:p.Trp78Ter
ENST00000636494.1:c.126-1452G>A	ENSP00000490388.1:n.126-1452G>A
ENST00000636537.1:c.234G>A	ENSP00000489914.1:p.Trp78Ter
ENST00000636577.1:c.186G>A	ENSP00000490027.1:p.Trp62Ter
ENST00000636691.1:c.-10G>A	ENSP00000490725.1:n.-10G>A
ENST00000636701.1:c.126-4032G>A	ENSP00000489800.1:n.126-4032G>A
ENST00000636715.1:c.174-1452G>A	ENSP00000490876.1:n.174-1452G>A
ENST00000636815.1:c.134-1452G>A
ENST00000636823.1:c.-10G>A	ENSP00000490798.1:n.-10G>A
ENST00000636828.1:n.362G>A
ENST00000636920.1:c.*22G>A	ENSP00000490437.1:n.*22G>A
ENST00000636997.1:c.186G>A	ENSP00000490093.1:p.Trp62Ter
ENST00000637013.1:c.*398G>A	ENSP00000490596.1:n.*398G>A
ENST00000637095.1:c.185+1G>A	ENSP00000490415.1:n.185+1G>A
ENST00000637202.1:c.126-1452G>A	ENSP00000490129.1:n.126-1452G>A
ENST00000637244.1:c.*704G>A	ENSP00000490188.1:n.*704G>A
ENST00000637429.1:c.*398G>A	ENSP00000490522.1:n.*398G>A
ENST00000637484.1:c.*223G>A	ENSP00000490837.1:n.*223G>A
ENST00000637528.1:c.186G>A	ENSP00000490801.1:p.Trp62Ter
ENST00000637536.1:c.540G>A	ENSP00000490464.1:p.Trp180Ter
ENST00000637561.1:c.186G>A	ENSP00000490536.1:p.Trp62Ter
ENST00000637603.1:c.186G>A	ENSP00000489979.1:p.Trp62Ter
ENST00000637609.1:n.219G>A
ENST00000637636.1:c.186G>A	ENSP00000490112.1:p.Trp62Ter
ENST00000637638.1:c.186G>A	ENSP00000490774.1:p.Trp62Ter
ENST00000637718.1:c.-10G>A	ENSP00000490133.1:n.-10G>A
ENST00000637792.1:c.234G>A	ENSP00000490423.1:p.Trp78Ter
ENST00000637805.1:c.*22G>A	ENSP00000489884.1:n.*22G>A
ENST00000637872.1:c.-10G>A	ENSP00000490432.1:n.-10G>A
ENST00000637898.1:n.216G>A
ENST00000637922.1:c.-10G>A	ENSP00000490071.1:n.-10G>A
ENST00000637946.1:c.*635G>A	ENSP00000490025.1:n.*635G>A
ENST00000637991.1:c.234G>A	ENSP00000489901.1:p.Trp78Ter
ENST00000638069.1:n.242G>A
XM_005273504.2:c.120G>A	XP_005273561.1:p.Trp40Ter
XM_005273504.3:c.120G>A	XP_005273561.1:p.Trp40Ter