Canonical Allele Identifier: CA4650991

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18071331C>T , CM000670.2:g.18071331C>T	GRCh38
NC_000008.10:g.17928840C>T , CM000670.1:g.17928840C>T	GRCh37
NC_000008.9:g.17973120C>T	NCBI36
NG_008985.1:g.18668G>A
NG_008985.2:g.18668G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.185G>A MANE Select	NP_808592.2:p.Trp62Ter
ENST00000637790.2:c.185G>A MANE Select	ENSP00000490272.1:p.Trp62Ter
NM_001127505.1:c.254G>A	NP_001120977.1:p.Trp85Ter
NM_001127505.2:c.254G>A	NP_001120977.1:p.Trp85Ter
NM_001127505.3:c.254G>A	NP_001120977.1:p.Trp85Ter
NM_001363743.1:c.-11G>A	NP_001350672.1:n.-11G>A
NM_001363743.2:c.-11G>A	NP_001350672.1:n.-11G>A
NM_004315.4:c.233G>A	NP_004306.3:p.Trp78Ter
NM_004315.5:c.233G>A	NP_004306.3:p.Trp78Ter
NM_004315.6:c.233G>A	NP_004306.3:p.Trp78Ter
NM_177924.3:c.185G>A	NP_808592.2:p.Trp62Ter
NM_177924.4:c.185G>A	NP_808592.2:p.Trp62Ter
ENST00000262097.10:c.185G>A	ENSP00000262097.6:p.Trp62Ter
ENST00000314146.10:c.254G>A	ENSP00000326970.10:p.Trp85Ter
ENST00000381733.8:c.233G>A	ENSP00000371152.4:p.Trp78Ter
ENST00000381733.9:c.233G>A	ENSP00000371152.4:p.Trp78Ter
ENST00000518087.6:n.233G>A
ENST00000518087.7:c.*21G>A	ENSP00000490753.1:n.*21G>A
ENST00000519468.5:n.191G>A
ENST00000519545.5:n.199G>A
ENST00000519545.6:n.202G>A
ENST00000520051.1:n.771G>A
ENST00000520781.5:c.185G>A	ENSP00000427751.1:p.Trp62Ter
ENST00000520781.6:c.185G>A	ENSP00000427751.1:p.Trp62Ter
ENST00000523593.5:n.157-4033G>A
ENST00000523593.6:c.*28G>A	ENSP00000490700.1:n.*28G>A
ENST00000635769.1:c.206G>A	ENSP00000490485.1:p.Trp69Ter
ENST00000635944.1:c.*21G>A	ENSP00000490195.1:n.*21G>A
ENST00000635998.1:c.185G>A	ENSP00000490506.1:p.Trp62Ter
ENST00000636009.1:c.117G>A	ENSP00000489988.1:n.117G>A
ENST00000636033.1:c.*21G>A	ENSP00000489617.1:n.*21G>A
ENST00000636050.1:c.*28G>A	ENSP00000490562.1:n.*28G>A
ENST00000636128.1:c.185G>A	ENSP00000489789.1:p.Trp62Ter
ENST00000636160.1:c.*77G>A	ENSP00000489651.1:n.*77G>A
ENST00000636171.1:c.185G>A	ENSP00000489761.1:p.Trp62Ter
ENST00000636269.1:c.-11G>A	ENSP00000490738.1:n.-11G>A
ENST00000636299.1:c.174-1459G>A	ENSP00000490202.1:n.174-1459G>A
ENST00000636435.1:n.269G>A
ENST00000636455.1:c.233G>A	ENSP00000490502.1:p.Trp78Ter
ENST00000636494.1:c.126-1453G>A	ENSP00000490388.1:n.126-1453G>A
ENST00000636537.1:c.233G>A	ENSP00000489914.1:p.Trp78Ter
ENST00000636577.1:c.185G>A	ENSP00000490027.1:p.Trp62Ter
ENST00000636691.1:c.-11G>A	ENSP00000490725.1:n.-11G>A
ENST00000636701.1:c.126-4033G>A	ENSP00000489800.1:n.126-4033G>A
ENST00000636715.1:c.174-1453G>A	ENSP00000490876.1:n.174-1453G>A
ENST00000636815.1:c.134-1453G>A
ENST00000636823.1:c.-11G>A	ENSP00000490798.1:n.-11G>A
ENST00000636828.1:n.361G>A
ENST00000636920.1:c.*21G>A	ENSP00000490437.1:n.*21G>A
ENST00000636997.1:c.185G>A	ENSP00000490093.1:p.Trp62Ter
ENST00000637013.1:c.*397G>A	ENSP00000490596.1:n.*397G>A
ENST00000637095.1:c.185G>A	ENSP00000490415.1:p.Cys62Tyr
ENST00000637202.1:c.126-1453G>A	ENSP00000490129.1:n.126-1453G>A
ENST00000637244.1:c.*703G>A	ENSP00000490188.1:n.*703G>A
ENST00000637429.1:c.*397G>A	ENSP00000490522.1:n.*397G>A
ENST00000637484.1:c.*222G>A	ENSP00000490837.1:n.*222G>A
ENST00000637528.1:c.185G>A	ENSP00000490801.1:p.Trp62Ter
ENST00000637536.1:c.539G>A	ENSP00000490464.1:p.Trp180Ter
ENST00000637561.1:c.185G>A	ENSP00000490536.1:p.Trp62Ter
ENST00000637603.1:c.185G>A	ENSP00000489979.1:p.Trp62Ter
ENST00000637609.1:n.218G>A
ENST00000637636.1:c.185G>A	ENSP00000490112.1:p.Trp62Ter
ENST00000637638.1:c.185G>A	ENSP00000490774.1:p.Trp62Ter
ENST00000637718.1:c.-11G>A	ENSP00000490133.1:n.-11G>A
ENST00000637792.1:c.233G>A	ENSP00000490423.1:p.Trp78Ter
ENST00000637805.1:c.*21G>A	ENSP00000489884.1:n.*21G>A
ENST00000637872.1:c.-11G>A	ENSP00000490432.1:n.-11G>A
ENST00000637898.1:n.215G>A
ENST00000637922.1:c.-11G>A	ENSP00000490071.1:n.-11G>A
ENST00000637946.1:c.*634G>A	ENSP00000490025.1:n.*634G>A
ENST00000637991.1:c.233G>A	ENSP00000489901.1:p.Trp78Ter
ENST00000638069.1:n.241G>A
XM_005273504.2:c.119G>A	XP_005273561.1:p.Trp40Ter
XM_005273504.3:c.119G>A	XP_005273561.1:p.Trp40Ter