Canonical Allele Identifier: CA370429414

Gene: ASAH1

Linked Data

• dbSNP Id: rs775976889
• gnomAD v2: 8-17918937-T-G
• gnomAD v4: 8-18061428-T-G
• MyVariant Identifiers: chr8:g.17918937T>G (hg19) ; chr8:g.18061428T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061428T>G , CM000670.2:g.18061428T>G	GRCh38
NC_000008.10:g.17918937T>G , CM000670.1:g.17918937T>G	GRCh37
NC_000008.9:g.17963217T>G	NCBI36
NG_008985.1:g.28571A>C
NG_008985.2:g.28571A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.782A>C	ENSP00000371152.4:p.Asp261Ala
ENST00000517409.2:n.702A>C
ENST00000518746.2:n.2420A>C
ENST00000519545.6:n.751A>C
ENST00000520781.6:c.659A>C	ENSP00000427751.1:p.Asp220Ala
ENST00000521542.2:n.42A>C
ENST00000635756.1:c.147A>C
ENST00000635944.1:c.*570A>C	ENSP00000490195.1:n.*570A>C
ENST00000635998.1:c.734A>C	ENSP00000490506.1:p.Asp245Ala
ENST00000636009.1:c.591A>C	ENSP00000489988.1:n.591A>C
ENST00000636033.1:c.*570A>C	ENSP00000489617.1:n.*570A>C
ENST00000636050.1:c.*577A>C	ENSP00000490562.1:n.*577A>C
ENST00000636128.1:c.413A>C	ENSP00000489789.1:p.Asp138Ala
ENST00000636160.1:c.*626A>C	ENSP00000489651.1:n.*626A>C
ENST00000636171.1:c.677A>C	ENSP00000489761.1:p.Asp226Ala
ENST00000636455.1:c.782A>C	ENSP00000490502.1:p.Asp261Ala
ENST00000636494.1:c.*514A>C	ENSP00000490388.1:n.*514A>C
ENST00000636563.1:n.396A>C
ENST00000636577.1:c.674A>C	ENSP00000490027.1:p.Asp225Ala
ENST00000636691.1:c.539A>C	ENSP00000490725.1:p.Asp180Ala
ENST00000636701.1:c.*385A>C	ENSP00000489800.1:n.*385A>C
ENST00000636815.1:c.651A>C
ENST00000636920.1:c.*570A>C	ENSP00000490437.1:n.*570A>C
ENST00000636997.1:c.647A>C	ENSP00000490093.1:p.Asp216Ala
ENST00000637013.1:c.*1102A>C	ENSP00000490596.1:n.*1102A>C
ENST00000637014.1:n.1141A>C
ENST00000637095.1:c.*514A>C	ENSP00000490415.1:n.*514A>C
ENST00000637244.1:c.*1252A>C	ENSP00000490188.1:n.*1252A>C
ENST00000637343.1:n.2171A>C
ENST00000637429.1:c.*946A>C	ENSP00000490522.1:n.*946A>C
ENST00000637484.1:c.*696A>C	ENSP00000490837.1:n.*696A>C
ENST00000637528.1:c.671A>C	ENSP00000490801.1:p.Asp224Ala
ENST00000637609.1:n.3455A>C
ENST00000637636.1:c.728A>C	ENSP00000490112.1:p.Asp243Ala
ENST00000637790.2:c.734A>C MANE Select	ENSP00000490272.1:p.Asp245Ala
ENST00000637857.1:n.1100A>C
ENST00000637922.1:c.539A>C	ENSP00000490071.1:p.Asp180Ala
ENST00000637991.1:c.707A>C	ENSP00000489901.1:p.Asp236Ala
ENST00000638028.1:n.951A>C
ENST00000638069.1:n.1555A>C
ENST00000262097.10:c.734A>C	ENSP00000262097.6:p.Asp245Ala
ENST00000314146.10:c.716A>C	ENSP00000326970.10:p.Asp239Ala
ENST00000381733.8:c.782A>C	ENSP00000371152.4:p.Asp261Ala
ENST00000518746.1:n.551A>C
ENST00000519468.5:n.563A>C
ENST00000520781.5:c.659A>C	ENSP00000427751.1:p.Asp220Ala
ENST00000521542.1:n.447A>C
NM_001127505.1:c.716A>C	NP_001120977.1:p.Asp239Ala
NM_001127505.2:c.716A>C	NP_001120977.1:p.Asp239Ala
NM_004315.4:c.782A>C	NP_004306.3:p.Asp261Ala
NM_004315.5:c.782A>C	NP_004306.3:p.Asp261Ala
NM_177924.3:c.734A>C	NP_808592.2:p.Asp245Ala
NM_177924.4:c.734A>C	NP_808592.2:p.Asp245Ala
XM_005273504.2:c.668A>C	XP_005273561.1:p.Asp223Ala
NM_001363743.1:c.539A>C	NP_001350672.1:p.Asp180Ala
XM_005273504.3:c.668A>C	XP_005273561.1:p.Asp223Ala
NM_177924.5:c.734A>C MANE Select	NP_808592.2:p.Asp245Ala
NM_001127505.3:c.716A>C	NP_001120977.1:p.Asp239Ala
NM_001363743.2:c.539A>C	NP_001350672.1:p.Asp180Ala
NM_004315.6:c.782A>C	NP_004306.3:p.Asp261Ala