Canonical Allele Identifier: CA370429459

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918952A>T (hg19) ; chr8:g.18061443A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061443A>T , CM000670.2:g.18061443A>T	GRCh38
NC_000008.10:g.17918952A>T , CM000670.1:g.17918952A>T	GRCh37
NC_000008.9:g.17963232A>T	NCBI36
NG_008985.1:g.28556T>A
NG_008985.2:g.28556T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.767T>A	ENSP00000371152.4:p.Ile256Asn
ENST00000517409.2:n.687T>A
ENST00000518746.2:n.2405T>A
ENST00000519545.6:n.736T>A
ENST00000520781.6:c.644T>A	ENSP00000427751.1:p.Ile215Asn
ENST00000521542.2:n.27T>A
ENST00000635756.1:c.132T>A
ENST00000635944.1:c.*555T>A	ENSP00000490195.1:n.*555T>A
ENST00000635998.1:c.719T>A	ENSP00000490506.1:p.Ile240Asn
ENST00000636009.1:c.576T>A	ENSP00000489988.1:n.576T>A
ENST00000636033.1:c.*555T>A	ENSP00000489617.1:n.*555T>A
ENST00000636050.1:c.*562T>A	ENSP00000490562.1:n.*562T>A
ENST00000636128.1:c.398T>A	ENSP00000489789.1:p.Ile133Asn
ENST00000636160.1:c.*611T>A	ENSP00000489651.1:n.*611T>A
ENST00000636171.1:c.662T>A	ENSP00000489761.1:p.Ile221Asn
ENST00000636455.1:c.767T>A	ENSP00000490502.1:p.Ile256Asn
ENST00000636494.1:c.*499T>A	ENSP00000490388.1:n.*499T>A
ENST00000636563.1:n.381T>A
ENST00000636577.1:c.659T>A	ENSP00000490027.1:p.Ile220Asn
ENST00000636691.1:c.524T>A	ENSP00000490725.1:p.Ile175Asn
ENST00000636701.1:c.*370T>A	ENSP00000489800.1:n.*370T>A
ENST00000636815.1:c.636T>A
ENST00000636920.1:c.*555T>A	ENSP00000490437.1:n.*555T>A
ENST00000636997.1:c.632T>A	ENSP00000490093.1:p.Ile211Asn
ENST00000637013.1:c.*1087T>A	ENSP00000490596.1:n.*1087T>A
ENST00000637014.1:n.1126T>A
ENST00000637095.1:c.*499T>A	ENSP00000490415.1:n.*499T>A
ENST00000637244.1:c.*1237T>A	ENSP00000490188.1:n.*1237T>A
ENST00000637343.1:n.2156T>A
ENST00000637429.1:c.*931T>A	ENSP00000490522.1:n.*931T>A
ENST00000637484.1:c.*681T>A	ENSP00000490837.1:n.*681T>A
ENST00000637528.1:c.656T>A	ENSP00000490801.1:p.Ile219Asn
ENST00000637609.1:n.3440T>A
ENST00000637636.1:c.713T>A	ENSP00000490112.1:p.Ile238Asn
ENST00000637790.2:c.719T>A MANE Select	ENSP00000490272.1:p.Ile240Asn
ENST00000637857.1:n.1085T>A
ENST00000637922.1:c.524T>A	ENSP00000490071.1:p.Ile175Asn
ENST00000637991.1:c.692T>A	ENSP00000489901.1:p.Ile231Asn
ENST00000638028.1:n.936T>A
ENST00000638069.1:n.1540T>A
ENST00000262097.10:c.719T>A	ENSP00000262097.6:p.Ile240Asn
ENST00000314146.10:c.701T>A	ENSP00000326970.10:p.Ile234Asn
ENST00000381733.8:c.767T>A	ENSP00000371152.4:p.Ile256Asn
ENST00000518746.1:n.536T>A
ENST00000519468.5:n.548T>A
ENST00000520781.5:c.644T>A	ENSP00000427751.1:p.Ile215Asn
ENST00000521542.1:n.432T>A
NM_001127505.1:c.701T>A	NP_001120977.1:p.Ile234Asn
NM_001127505.2:c.701T>A	NP_001120977.1:p.Ile234Asn
NM_004315.4:c.767T>A	NP_004306.3:p.Ile256Asn
NM_004315.5:c.767T>A	NP_004306.3:p.Ile256Asn
NM_177924.3:c.719T>A	NP_808592.2:p.Ile240Asn
NM_177924.4:c.719T>A	NP_808592.2:p.Ile240Asn
XM_005273504.2:c.653T>A	XP_005273561.1:p.Ile218Asn
NM_001363743.1:c.524T>A	NP_001350672.1:p.Ile175Asn
XM_005273504.3:c.653T>A	XP_005273561.1:p.Ile218Asn
NM_177924.5:c.719T>A MANE Select	NP_808592.2:p.Ile240Asn
NM_001127505.3:c.701T>A	NP_001120977.1:p.Ile234Asn
NM_001363743.2:c.524T>A	NP_001350672.1:p.Ile175Asn
NM_004315.6:c.767T>A	NP_004306.3:p.Ile256Asn