Canonical Allele Identifier: CA459662182

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918894A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061385A>G , CM000670.2:g.18061385A>G	GRCh38
NC_000008.10:g.17918894A>G , CM000670.1:g.17918894A>G	GRCh37
NC_000008.9:g.17963174A>G	NCBI36
NG_008985.1:g.28614T>C
NG_008985.2:g.28614T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.825T>C	ENSP00000371152.4:p.Asn275=
ENST00000518746.2:n.2463T>C
ENST00000520781.6:c.702T>C	ENSP00000427751.1:p.Asn234=
ENST00000521542.2:n.85T>C
ENST00000635756.1:c.190T>C
ENST00000635944.1:c.*613T>C	ENSP00000490195.1:n.*613T>C
ENST00000635998.1:c.777T>C	ENSP00000490506.1:p.Asn259=
ENST00000636009.1:c.634T>C	ENSP00000489988.1:n.634T>C
ENST00000636033.1:c.*613T>C	ENSP00000489617.1:n.*613T>C
ENST00000636050.1:c.*620T>C	ENSP00000490562.1:n.*620T>C
ENST00000636128.1:c.456T>C	ENSP00000489789.1:p.Asn152=
ENST00000636160.1:c.*669T>C	ENSP00000489651.1:n.*669T>C
ENST00000636171.1:c.720T>C	ENSP00000489761.1:p.Asn240=
ENST00000636455.1:c.825T>C	ENSP00000490502.1:p.Asn275=
ENST00000636494.1:c.*557T>C	ENSP00000490388.1:n.*557T>C
ENST00000636563.1:n.439T>C
ENST00000636577.1:c.717T>C	ENSP00000490027.1:p.Asn239=
ENST00000636691.1:c.582T>C	ENSP00000490725.1:p.Asn194=
ENST00000636701.1:c.*428T>C	ENSP00000489800.1:n.*428T>C
ENST00000636815.1:c.694T>C
ENST00000636920.1:c.*613T>C	ENSP00000490437.1:n.*613T>C
ENST00000636997.1:c.690T>C	ENSP00000490093.1:p.Asn230=
ENST00000637013.1:c.*1145T>C	ENSP00000490596.1:n.*1145T>C
ENST00000637014.1:n.1184T>C
ENST00000637095.1:c.*557T>C	ENSP00000490415.1:n.*557T>C
ENST00000637244.1:c.*1295T>C	ENSP00000490188.1:n.*1295T>C
ENST00000637343.1:n.2214T>C
ENST00000637429.1:c.*989T>C	ENSP00000490522.1:n.*989T>C
ENST00000637484.1:c.*739T>C	ENSP00000490837.1:n.*739T>C
ENST00000637528.1:c.714T>C	ENSP00000490801.1:p.Asn238=
ENST00000637609.1:n.3498T>C
ENST00000637636.1:c.771T>C	ENSP00000490112.1:p.Asn257=
ENST00000637790.2:c.777T>C MANE Select	ENSP00000490272.1:p.Asn259=
ENST00000637857.1:n.1143T>C
ENST00000637922.1:c.582T>C	ENSP00000490071.1:p.Asn194=
ENST00000637991.1:c.750T>C	ENSP00000489901.1:p.Asn250=
ENST00000638028.1:n.994T>C
ENST00000638069.1:n.1598T>C
ENST00000262097.10:c.777T>C	ENSP00000262097.6:p.Asn259=
ENST00000314146.10:c.759T>C	ENSP00000326970.10:p.Asn253=
ENST00000381733.8:c.825T>C	ENSP00000371152.4:p.Asn275=
ENST00000519468.5:n.606T>C
ENST00000520781.5:c.702T>C	ENSP00000427751.1:p.Asn234=
ENST00000521542.1:n.490T>C
NM_001127505.1:c.759T>C	NP_001120977.1:p.Asn253=
NM_001127505.2:c.759T>C	NP_001120977.1:p.Asn253=
NM_004315.4:c.825T>C	NP_004306.3:p.Asn275=
NM_004315.5:c.825T>C	NP_004306.3:p.Asn275=
NM_177924.3:c.777T>C	NP_808592.2:p.Asn259=
NM_177924.4:c.777T>C	NP_808592.2:p.Asn259=
XM_005273504.2:c.711T>C	XP_005273561.1:p.Asn237=
NM_001363743.1:c.582T>C	NP_001350672.1:p.Asn194=
XM_005273504.3:c.711T>C	XP_005273561.1:p.Asn237=
NM_177924.5:c.777T>C MANE Select	NP_808592.2:p.Asn259=
NM_001127505.3:c.759T>C	NP_001120977.1:p.Asn253=
NM_001363743.2:c.582T>C	NP_001350672.1:p.Asn194=
NM_004315.6:c.825T>C	NP_004306.3:p.Asn275=