Canonical Allele Identifier: CA4651083

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18075578C>T , CM000670.2:g.18075578C>T	GRCh38
NC_000008.10:g.17933087C>T , CM000670.1:g.17933087C>T	GRCh37
NC_000008.9:g.17977367C>T	NCBI36
NG_008985.1:g.14421G>A
NG_008985.2:g.14421G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.136G>A	ENSP00000371152.4:p.Asp46Asn
ENST00000518087.7:c.152G>A	ENSP00000490753.1:p.Gly51Glu
ENST00000519545.6:n.105G>A
ENST00000520781.6:c.88G>A	ENSP00000427751.1:p.Asp30Asn
ENST00000523593.6:c.81G>A	ENSP00000490700.1:p.Arg27=
ENST00000635769.1:c.88G>A	ENSP00000490485.1:p.Asp30Asn
ENST00000635944.1:c.152G>A	ENSP00000490195.1:p.Gly51Glu
ENST00000635998.1:c.88G>A	ENSP00000490506.1:p.Asp30Asn
ENST00000636009.1:c.20G>A	ENSP00000489988.1:p.Gly7Glu
ENST00000636033.1:c.170G>A	ENSP00000489617.1:p.Gly57Glu
ENST00000636050.1:c.225G>A	ENSP00000490562.1:p.Arg75=
ENST00000636128.1:c.88G>A	ENSP00000489789.1:p.Asp30Asn
ENST00000636160.1:c.88G>A	ENSP00000489651.1:p.Asp30Asn
ENST00000636171.1:c.88G>A	ENSP00000489761.1:p.Asp30Asn
ENST00000636269.1:c.-108G>A	ENSP00000490738.1:n.-108G>A
ENST00000636299.1:c.136G>A	ENSP00000490202.1:p.Asp46Asn
ENST00000636435.1:n.172G>A
ENST00000636455.1:c.136G>A	ENSP00000490502.1:p.Asp46Asn
ENST00000636494.1:c.88G>A	ENSP00000490388.1:p.Asp30Asn
ENST00000636537.1:c.136G>A	ENSP00000489914.1:p.Asp46Asn
ENST00000636577.1:c.88G>A	ENSP00000490027.1:p.Asp30Asn
ENST00000636691.1:c.-108G>A	ENSP00000490725.1:n.-108G>A
ENST00000636701.1:c.88G>A	ENSP00000489800.1:p.Asp30Asn
ENST00000636715.1:c.136G>A	ENSP00000490876.1:p.Asp46Asn
ENST00000636815.1:c.96G>A
ENST00000636823.1:c.-108G>A	ENSP00000490798.1:n.-108G>A
ENST00000636828.1:n.264G>A
ENST00000636920.1:c.128G>A	ENSP00000490437.1:p.Gly43Glu
ENST00000636997.1:c.88G>A	ENSP00000490093.1:p.Asp30Asn
ENST00000637013.1:c.*300G>A	ENSP00000490596.1:n.*300G>A
ENST00000637095.1:c.88G>A	ENSP00000490415.1:p.Asp30Asn
ENST00000637202.1:c.88G>A	ENSP00000490129.1:p.Asp30Asn
ENST00000637244.1:c.*606G>A	ENSP00000490188.1:n.*606G>A
ENST00000637429.1:c.*300G>A	ENSP00000490522.1:n.*300G>A
ENST00000637484.1:c.*125G>A	ENSP00000490837.1:n.*125G>A
ENST00000637528.1:c.88G>A	ENSP00000490801.1:p.Asp30Asn
ENST00000637536.1:c.442G>A	ENSP00000490464.1:p.Asp148Asn
ENST00000637561.1:c.88G>A	ENSP00000490536.1:p.Asp30Asn
ENST00000637603.1:c.88G>A	ENSP00000489979.1:p.Asp30Asn
ENST00000637609.1:n.121G>A
ENST00000637636.1:c.88G>A	ENSP00000490112.1:p.Asp30Asn
ENST00000637638.1:c.88G>A	ENSP00000490774.1:p.Asp30Asn
ENST00000637718.1:c.-108G>A	ENSP00000490133.1:n.-108G>A
ENST00000637790.2:c.88G>A MANE Select	ENSP00000490272.1:p.Asp30Asn
ENST00000637792.1:c.136G>A	ENSP00000490423.1:p.Asp46Asn
ENST00000637805.1:c.140G>A	ENSP00000489884.1:p.Gly47Glu
ENST00000637872.1:c.-108G>A	ENSP00000490432.1:n.-108G>A
ENST00000637898.1:n.118G>A
ENST00000637922.1:c.-108G>A	ENSP00000490071.1:n.-108G>A
ENST00000637946.1:c.*537G>A	ENSP00000490025.1:n.*537G>A
ENST00000637991.1:c.136G>A	ENSP00000489901.1:p.Asp46Asn
ENST00000638069.1:n.144G>A
ENST00000262097.10:c.88G>A	ENSP00000262097.6:p.Asp30Asn
ENST00000314146.10:c.136G>A	ENSP00000326970.10:p.Asp46Asn
ENST00000381733.8:c.136G>A	ENSP00000371152.4:p.Asp46Asn
ENST00000518087.6:n.136G>A
ENST00000519468.5:n.94G>A
ENST00000519545.5:n.102G>A
ENST00000520051.1:n.674G>A
ENST00000520781.5:c.88G>A	ENSP00000427751.1:p.Asp30Asn
ENST00000523593.5:n.119G>A
NM_001127505.1:c.136G>A	NP_001120977.1:p.Asp46Asn
NM_001127505.2:c.136G>A	NP_001120977.1:p.Asp46Asn
NM_004315.4:c.136G>A	NP_004306.3:p.Asp46Asn
NM_004315.5:c.136G>A	NP_004306.3:p.Asp46Asn
NM_177924.3:c.88G>A	NP_808592.2:p.Asp30Asn
NM_177924.4:c.88G>A	NP_808592.2:p.Asp30Asn
XM_005273504.2:c.22G>A	XP_005273561.1:p.Asp8Asn
NM_001363743.1:c.-108G>A	NP_001350672.1:n.-108G>A
XM_005273504.3:c.22G>A	XP_005273561.1:p.Asp8Asn
NM_177924.5:c.88G>A MANE Select	NP_808592.2:p.Asp30Asn
NM_001127505.3:c.136G>A	NP_001120977.1:p.Asp46Asn
NM_001363743.2:c.-108G>A	NP_001350672.1:n.-108G>A
NM_004315.6:c.136G>A	NP_004306.3:p.Asp46Asn