Canonical Allele Identifier: CA370429473

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918956A>C (hg19) ; chr8:g.18061447A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.763T>G	ENSP00000371152.4:p.Trp255Gly
ENST00000517409.2:n.683T>G
ENST00000518746.2:n.2401T>G
ENST00000519545.6:n.732T>G
ENST00000520781.6:c.640T>G	ENSP00000427751.1:p.Trp214Gly
ENST00000521542.2:n.23T>G
ENST00000635756.1:c.128T>G
ENST00000635944.1:c.*551T>G	ENSP00000490195.1:n.*551T>G
ENST00000635998.1:c.715T>G	ENSP00000490506.1:p.Trp239Gly
ENST00000636009.1:c.572T>G	ENSP00000489988.1:n.572T>G
ENST00000636033.1:c.*551T>G	ENSP00000489617.1:n.*551T>G
ENST00000636050.1:c.*558T>G	ENSP00000490562.1:n.*558T>G
ENST00000636128.1:c.394T>G	ENSP00000489789.1:p.Trp132Gly
ENST00000636160.1:c.*607T>G	ENSP00000489651.1:n.*607T>G
ENST00000636171.1:c.658T>G	ENSP00000489761.1:p.Trp220Gly
ENST00000636455.1:c.763T>G	ENSP00000490502.1:p.Trp255Gly
ENST00000636494.1:c.*495T>G	ENSP00000490388.1:n.*495T>G
ENST00000636563.1:n.377T>G
ENST00000636577.1:c.655T>G	ENSP00000490027.1:p.Trp219Gly
ENST00000636691.1:c.520T>G	ENSP00000490725.1:p.Trp174Gly
ENST00000636701.1:c.*366T>G	ENSP00000489800.1:n.*366T>G
ENST00000636815.1:c.632T>G
ENST00000636920.1:c.*551T>G	ENSP00000490437.1:n.*551T>G
ENST00000636997.1:c.628T>G	ENSP00000490093.1:p.Trp210Gly
ENST00000637013.1:c.*1083T>G	ENSP00000490596.1:n.*1083T>G
ENST00000637014.1:n.1122T>G
ENST00000637095.1:c.*495T>G	ENSP00000490415.1:n.*495T>G
ENST00000637244.1:c.*1233T>G	ENSP00000490188.1:n.*1233T>G
ENST00000637343.1:n.2152T>G
ENST00000637429.1:c.*927T>G	ENSP00000490522.1:n.*927T>G
ENST00000637484.1:c.*677T>G	ENSP00000490837.1:n.*677T>G
ENST00000637528.1:c.652T>G	ENSP00000490801.1:p.Trp218Gly
ENST00000637609.1:n.3436T>G
ENST00000637636.1:c.709T>G	ENSP00000490112.1:p.Trp237Gly
ENST00000637790.2:c.715T>G MANE Select	ENSP00000490272.1:p.Trp239Gly
ENST00000637857.1:n.1081T>G
ENST00000637922.1:c.520T>G	ENSP00000490071.1:p.Trp174Gly
ENST00000637991.1:c.688T>G	ENSP00000489901.1:p.Trp230Gly
ENST00000638028.1:n.932T>G
ENST00000638069.1:n.1536T>G
ENST00000262097.10:c.715T>G	ENSP00000262097.6:p.Trp239Gly
ENST00000314146.10:c.697T>G	ENSP00000326970.10:p.Trp233Gly
ENST00000381733.8:c.763T>G	ENSP00000371152.4:p.Trp255Gly
ENST00000518746.1:n.532T>G
ENST00000519468.5:n.544T>G
ENST00000520781.5:c.640T>G	ENSP00000427751.1:p.Trp214Gly
ENST00000521542.1:n.428T>G
NM_001127505.1:c.697T>G	NP_001120977.1:p.Trp233Gly
NM_001127505.2:c.697T>G	NP_001120977.1:p.Trp233Gly
NM_004315.4:c.763T>G	NP_004306.3:p.Trp255Gly
NM_004315.5:c.763T>G	NP_004306.3:p.Trp255Gly
NM_177924.3:c.715T>G	NP_808592.2:p.Trp239Gly
NM_177924.4:c.715T>G	NP_808592.2:p.Trp239Gly
XM_005273504.2:c.649T>G	XP_005273561.1:p.Trp217Gly
NM_001363743.1:c.520T>G	NP_001350672.1:p.Trp174Gly
XM_005273504.3:c.649T>G	XP_005273561.1:p.Trp217Gly
NM_177924.5:c.715T>G MANE Select	NP_808592.2:p.Trp239Gly
NM_001127505.3:c.697T>G	NP_001120977.1:p.Trp233Gly
NM_001363743.2:c.520T>G	NP_001350672.1:p.Trp174Gly
NM_004315.6:c.763T>G	NP_004306.3:p.Trp255Gly