Canonical Allele Identifier: CA370429475

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18061447-A-G
• MyVariant Identifiers: chr8:g.17918956A>G (hg19) ; chr8:g.18061447A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061447A>G , CM000670.2:g.18061447A>G	GRCh38
NC_000008.10:g.17918956A>G , CM000670.1:g.17918956A>G	GRCh37
NC_000008.9:g.17963236A>G	NCBI36
NG_008985.1:g.28552T>C
NG_008985.2:g.28552T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.763T>C	ENSP00000371152.4:p.Trp255Arg
ENST00000517409.2:n.683T>C
ENST00000518746.2:n.2401T>C
ENST00000519545.6:n.732T>C
ENST00000520781.6:c.640T>C	ENSP00000427751.1:p.Trp214Arg
ENST00000521542.2:n.23T>C
ENST00000635756.1:c.128T>C
ENST00000635944.1:c.*551T>C	ENSP00000490195.1:n.*551T>C
ENST00000635998.1:c.715T>C	ENSP00000490506.1:p.Trp239Arg
ENST00000636009.1:c.572T>C	ENSP00000489988.1:n.572T>C
ENST00000636033.1:c.*551T>C	ENSP00000489617.1:n.*551T>C
ENST00000636050.1:c.*558T>C	ENSP00000490562.1:n.*558T>C
ENST00000636128.1:c.394T>C	ENSP00000489789.1:p.Trp132Arg
ENST00000636160.1:c.*607T>C	ENSP00000489651.1:n.*607T>C
ENST00000636171.1:c.658T>C	ENSP00000489761.1:p.Trp220Arg
ENST00000636455.1:c.763T>C	ENSP00000490502.1:p.Trp255Arg
ENST00000636494.1:c.*495T>C	ENSP00000490388.1:n.*495T>C
ENST00000636563.1:n.377T>C
ENST00000636577.1:c.655T>C	ENSP00000490027.1:p.Trp219Arg
ENST00000636691.1:c.520T>C	ENSP00000490725.1:p.Trp174Arg
ENST00000636701.1:c.*366T>C	ENSP00000489800.1:n.*366T>C
ENST00000636815.1:c.632T>C
ENST00000636920.1:c.*551T>C	ENSP00000490437.1:n.*551T>C
ENST00000636997.1:c.628T>C	ENSP00000490093.1:p.Trp210Arg
ENST00000637013.1:c.*1083T>C	ENSP00000490596.1:n.*1083T>C
ENST00000637014.1:n.1122T>C
ENST00000637095.1:c.*495T>C	ENSP00000490415.1:n.*495T>C
ENST00000637244.1:c.*1233T>C	ENSP00000490188.1:n.*1233T>C
ENST00000637343.1:n.2152T>C
ENST00000637429.1:c.*927T>C	ENSP00000490522.1:n.*927T>C
ENST00000637484.1:c.*677T>C	ENSP00000490837.1:n.*677T>C
ENST00000637528.1:c.652T>C	ENSP00000490801.1:p.Trp218Arg
ENST00000637609.1:n.3436T>C
ENST00000637636.1:c.709T>C	ENSP00000490112.1:p.Trp237Arg
ENST00000637790.2:c.715T>C MANE Select	ENSP00000490272.1:p.Trp239Arg
ENST00000637857.1:n.1081T>C
ENST00000637922.1:c.520T>C	ENSP00000490071.1:p.Trp174Arg
ENST00000637991.1:c.688T>C	ENSP00000489901.1:p.Trp230Arg
ENST00000638028.1:n.932T>C
ENST00000638069.1:n.1536T>C
ENST00000262097.10:c.715T>C	ENSP00000262097.6:p.Trp239Arg
ENST00000314146.10:c.697T>C	ENSP00000326970.10:p.Trp233Arg
ENST00000381733.8:c.763T>C	ENSP00000371152.4:p.Trp255Arg
ENST00000518746.1:n.532T>C
ENST00000519468.5:n.544T>C
ENST00000520781.5:c.640T>C	ENSP00000427751.1:p.Trp214Arg
ENST00000521542.1:n.428T>C
NM_001127505.1:c.697T>C	NP_001120977.1:p.Trp233Arg
NM_001127505.2:c.697T>C	NP_001120977.1:p.Trp233Arg
NM_004315.4:c.763T>C	NP_004306.3:p.Trp255Arg
NM_004315.5:c.763T>C	NP_004306.3:p.Trp255Arg
NM_177924.3:c.715T>C	NP_808592.2:p.Trp239Arg
NM_177924.4:c.715T>C	NP_808592.2:p.Trp239Arg
XM_005273504.2:c.649T>C	XP_005273561.1:p.Trp217Arg
NM_001363743.1:c.520T>C	NP_001350672.1:p.Trp174Arg
XM_005273504.3:c.649T>C	XP_005273561.1:p.Trp217Arg
NM_177924.5:c.715T>C MANE Select	NP_808592.2:p.Trp239Arg
NM_001127505.3:c.697T>C	NP_001120977.1:p.Trp233Arg
NM_001363743.2:c.520T>C	NP_001350672.1:p.Trp174Arg
NM_004315.6:c.763T>C	NP_004306.3:p.Trp255Arg