Canonical Allele Identifier: CA459662193

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 1629578
• ClinVar RCV Id: RCV002125545
• dbSNP Id: rs1311051871
• gnomAD v2: 8-17918909-T-C
• gnomAD v3: 8-18061400-T-C
• gnomAD v4: 8-18061400-T-C
• MyVariant Identifiers: chr8:g.17918909T>C (hg19) ; chr8:g.18061400T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061400T>C , CM000670.2:g.18061400T>C	GRCh38
NC_000008.10:g.17918909T>C , CM000670.1:g.17918909T>C	GRCh37
NC_000008.9:g.17963189T>C	NCBI36
NG_008985.1:g.28599A>G
NG_008985.2:g.28599A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.810A>G	ENSP00000371152.4:p.Arg270=
ENST00000517409.2:n.730A>G
ENST00000518746.2:n.2448A>G
ENST00000520781.6:c.687A>G	ENSP00000427751.1:p.Arg229=
ENST00000521542.2:n.70A>G
ENST00000635756.1:c.175A>G
ENST00000635944.1:c.*598A>G	ENSP00000490195.1:n.*598A>G
ENST00000635998.1:c.762A>G	ENSP00000490506.1:p.Arg254=
ENST00000636009.1:c.619A>G	ENSP00000489988.1:n.619A>G
ENST00000636033.1:c.*598A>G	ENSP00000489617.1:n.*598A>G
ENST00000636050.1:c.*605A>G	ENSP00000490562.1:n.*605A>G
ENST00000636128.1:c.441A>G	ENSP00000489789.1:p.Arg147=
ENST00000636160.1:c.*654A>G	ENSP00000489651.1:n.*654A>G
ENST00000636171.1:c.705A>G	ENSP00000489761.1:p.Arg235=
ENST00000636455.1:c.810A>G	ENSP00000490502.1:p.Arg270=
ENST00000636494.1:c.*542A>G	ENSP00000490388.1:n.*542A>G
ENST00000636563.1:n.424A>G
ENST00000636577.1:c.702A>G	ENSP00000490027.1:p.Arg234=
ENST00000636691.1:c.567A>G	ENSP00000490725.1:p.Arg189=
ENST00000636701.1:c.*413A>G	ENSP00000489800.1:n.*413A>G
ENST00000636815.1:c.679A>G
ENST00000636920.1:c.*598A>G	ENSP00000490437.1:n.*598A>G
ENST00000636997.1:c.675A>G	ENSP00000490093.1:p.Arg225=
ENST00000637013.1:c.*1130A>G	ENSP00000490596.1:n.*1130A>G
ENST00000637014.1:n.1169A>G
ENST00000637095.1:c.*542A>G	ENSP00000490415.1:n.*542A>G
ENST00000637244.1:c.*1280A>G	ENSP00000490188.1:n.*1280A>G
ENST00000637343.1:n.2199A>G
ENST00000637429.1:c.*974A>G	ENSP00000490522.1:n.*974A>G
ENST00000637484.1:c.*724A>G	ENSP00000490837.1:n.*724A>G
ENST00000637528.1:c.699A>G	ENSP00000490801.1:p.Arg233=
ENST00000637609.1:n.3483A>G
ENST00000637636.1:c.756A>G	ENSP00000490112.1:p.Arg252=
ENST00000637790.2:c.762A>G MANE Select	ENSP00000490272.1:p.Arg254=
ENST00000637857.1:n.1128A>G
ENST00000637922.1:c.567A>G	ENSP00000490071.1:p.Arg189=
ENST00000637991.1:c.735A>G	ENSP00000489901.1:p.Arg245=
ENST00000638028.1:n.979A>G
ENST00000638069.1:n.1583A>G
ENST00000262097.10:c.762A>G	ENSP00000262097.6:p.Arg254=
ENST00000314146.10:c.744A>G	ENSP00000326970.10:p.Arg248=
ENST00000381733.8:c.810A>G	ENSP00000371152.4:p.Arg270=
ENST00000518746.1:n.579A>G
ENST00000519468.5:n.591A>G
ENST00000520781.5:c.687A>G	ENSP00000427751.1:p.Arg229=
ENST00000521542.1:n.475A>G
NM_001127505.1:c.744A>G	NP_001120977.1:p.Arg248=
NM_001127505.2:c.744A>G	NP_001120977.1:p.Arg248=
NM_004315.4:c.810A>G	NP_004306.3:p.Arg270=
NM_004315.5:c.810A>G	NP_004306.3:p.Arg270=
NM_177924.3:c.762A>G	NP_808592.2:p.Arg254=
NM_177924.4:c.762A>G	NP_808592.2:p.Arg254=
XM_005273504.2:c.696A>G	XP_005273561.1:p.Arg232=
NM_001363743.1:c.567A>G	NP_001350672.1:p.Arg189=
XM_005273504.3:c.696A>G	XP_005273561.1:p.Arg232=
NM_177924.5:c.762A>G MANE Select	NP_808592.2:p.Arg254=
NM_001127505.3:c.744A>G	NP_001120977.1:p.Arg248=
NM_001363743.2:c.567A>G	NP_001350672.1:p.Arg189=
NM_004315.6:c.810A>G	NP_004306.3:p.Arg270=