Canonical Allele Identifier: CA1768019947

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061412C= , CM000670.2:g.18061412C=	GRCh38
NC_000008.10:g.17918921C= , CM000670.1:g.17918921C=	GRCh37
NC_000008.9:g.17963201C=	NCBI36
NG_008985.1:g.28587G=
NG_008985.2:g.28587G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.798G=	ENSP00000371152.4:p.Gly266=
ENST00000517409.2:n.718G=
ENST00000518746.2:n.2436G=
ENST00000519545.6:n.767G=
ENST00000520781.6:c.675G=	ENSP00000427751.1:p.Gly225=
ENST00000521542.2:n.58G=
ENST00000635756.1:c.163G=
ENST00000635944.1:c.*586G=	ENSP00000490195.1:n.*586G=
ENST00000635998.1:c.750G=	ENSP00000490506.1:p.Gly250=
ENST00000636009.1:c.607G=	ENSP00000489988.1:n.607G=
ENST00000636033.1:c.*586G=	ENSP00000489617.1:n.*586G=
ENST00000636050.1:c.*593G=	ENSP00000490562.1:n.*593G=
ENST00000636128.1:c.429G=	ENSP00000489789.1:p.Gly143=
ENST00000636160.1:c.*642G=	ENSP00000489651.1:n.*642G=
ENST00000636171.1:c.693G=	ENSP00000489761.1:p.Gly231=
ENST00000636455.1:c.798G=	ENSP00000490502.1:p.Gly266=
ENST00000636494.1:c.*530G=	ENSP00000490388.1:n.*530G=
ENST00000636563.1:n.412G=
ENST00000636577.1:c.690G=	ENSP00000490027.1:p.Gly230=
ENST00000636691.1:c.555G=	ENSP00000490725.1:p.Gly185=
ENST00000636701.1:c.*401G=	ENSP00000489800.1:n.*401G=
ENST00000636815.1:c.667G=
ENST00000636920.1:c.*586G=	ENSP00000490437.1:n.*586G=
ENST00000636997.1:c.663G=	ENSP00000490093.1:p.Gly221=
ENST00000637013.1:c.*1118G=	ENSP00000490596.1:n.*1118G=
ENST00000637014.1:n.1157G=
ENST00000637095.1:c.*530G=	ENSP00000490415.1:n.*530G=
ENST00000637244.1:c.*1268G=	ENSP00000490188.1:n.*1268G=
ENST00000637343.1:n.2187G=
ENST00000637429.1:c.*962G=	ENSP00000490522.1:n.*962G=
ENST00000637484.1:c.*712G=	ENSP00000490837.1:n.*712G=
ENST00000637528.1:c.687G=	ENSP00000490801.1:p.Gly229=
ENST00000637609.1:n.3471G=
ENST00000637636.1:c.744G=	ENSP00000490112.1:p.Gly248=
ENST00000637790.2:c.750G= MANE Select	ENSP00000490272.1:p.Gly250=
ENST00000637857.1:n.1116G=
ENST00000637922.1:c.555G=	ENSP00000490071.1:p.Gly185=
ENST00000637991.1:c.723G=	ENSP00000489901.1:p.Gly241=
ENST00000638028.1:n.967G=
ENST00000638069.1:n.1571G=
ENST00000262097.10:c.750G=	ENSP00000262097.6:p.Gly250=
ENST00000314146.10:c.732G=	ENSP00000326970.10:p.Gly244=
ENST00000381733.8:c.798G=	ENSP00000371152.4:p.Gly266=
ENST00000518746.1:n.567G=
ENST00000519468.5:n.579G=
ENST00000520781.5:c.675G=	ENSP00000427751.1:p.Gly225=
ENST00000521542.1:n.463G=
NM_001127505.1:c.732G=	NP_001120977.1:p.Gly244=
NM_001127505.2:c.732G=	NP_001120977.1:p.Gly244=
NM_004315.4:c.798G=	NP_004306.3:p.Gly266=
NM_004315.5:c.798G=	NP_004306.3:p.Gly266=
NM_177924.3:c.750G=	NP_808592.2:p.Gly250=
NM_177924.4:c.750G=	NP_808592.2:p.Gly250=
XM_005273504.2:c.684G=	XP_005273561.1:p.Gly228=
NM_001363743.1:c.555G=	NP_001350672.1:p.Gly185=
XM_005273504.3:c.684G=	XP_005273561.1:p.Gly228=
NM_177924.5:c.750G= MANE Select	NP_808592.2:p.Gly250=
NM_001127505.3:c.732G=	NP_001120977.1:p.Gly244=
NM_001363743.2:c.555G=	NP_001350672.1:p.Gly185=
NM_004315.6:c.798G=	NP_004306.3:p.Gly266=