Canonical Allele Identifier: CA10630531

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 362375
• ClinVar RCV Id: RCV000367143 ; RCV000853060
• dbSNP Id: rs886062781
• gnomAD v4: 8-18061458-C-T
• MyVariant Identifiers: chr8:g.17918967C>T (hg19) ; chr8:g.18061458C>T (hg38)
• PubMed: PMID:24355074 ; PMID:24614645

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061458C>T , CM000670.2:g.18061458C>T	GRCh38
NC_000008.10:g.17918967C>T , CM000670.1:g.17918967C>T	GRCh37
NC_000008.9:g.17963247C>T	NCBI36
NG_008985.1:g.28541G>A
NG_008985.2:g.28541G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.752G>A	ENSP00000371152.4:p.Gly251Asp
ENST00000517409.2:n.672G>A
ENST00000518746.2:n.2390G>A
ENST00000519545.6:n.721G>A
ENST00000520781.6:c.629G>A	ENSP00000427751.1:p.Gly210Asp
ENST00000521542.2:n.12G>A
ENST00000635756.1:c.126-9G>A
ENST00000635944.1:c.*540G>A	ENSP00000490195.1:n.*540G>A
ENST00000635998.1:c.704G>A	ENSP00000490506.1:p.Gly235Asp
ENST00000636009.1:c.561G>A	ENSP00000489988.1:n.561G>A
ENST00000636033.1:c.*540G>A	ENSP00000489617.1:n.*540G>A
ENST00000636050.1:c.*547G>A	ENSP00000490562.1:n.*547G>A
ENST00000636128.1:c.383G>A	ENSP00000489789.1:p.Gly128Asp
ENST00000636160.1:c.*596G>A	ENSP00000489651.1:n.*596G>A
ENST00000636171.1:c.647G>A	ENSP00000489761.1:p.Gly216Asp
ENST00000636455.1:c.752G>A	ENSP00000490502.1:p.Gly251Asp
ENST00000636494.1:c.*484G>A	ENSP00000490388.1:n.*484G>A
ENST00000636563.1:n.366G>A
ENST00000636577.1:c.644G>A	ENSP00000490027.1:p.Gly215Asp
ENST00000636691.1:c.509G>A	ENSP00000490725.1:p.Gly170Asp
ENST00000636701.1:c.*355G>A	ENSP00000489800.1:n.*355G>A
ENST00000636815.1:c.621G>A
ENST00000636920.1:c.*540G>A	ENSP00000490437.1:n.*540G>A
ENST00000636997.1:c.617G>A	ENSP00000490093.1:p.Gly206Asp
ENST00000637013.1:c.*1072G>A	ENSP00000490596.1:n.*1072G>A
ENST00000637014.1:n.1111G>A
ENST00000637095.1:c.*484G>A	ENSP00000490415.1:n.*484G>A
ENST00000637244.1:c.*1222G>A	ENSP00000490188.1:n.*1222G>A
ENST00000637343.1:n.2141G>A
ENST00000637429.1:c.*916G>A	ENSP00000490522.1:n.*916G>A
ENST00000637484.1:c.*666G>A	ENSP00000490837.1:n.*666G>A
ENST00000637528.1:c.641G>A	ENSP00000490801.1:p.Gly214Asp
ENST00000637609.1:n.3425G>A
ENST00000637636.1:c.698G>A	ENSP00000490112.1:p.Gly233Asp
ENST00000637790.2:c.704G>A MANE Select	ENSP00000490272.1:p.Gly235Asp
ENST00000637857.1:n.1070G>A
ENST00000637922.1:c.509G>A	ENSP00000490071.1:p.Gly170Asp
ENST00000637991.1:c.677G>A	ENSP00000489901.1:p.Gly226Asp
ENST00000638028.1:n.921G>A
ENST00000638069.1:n.1525G>A
ENST00000262097.10:c.704G>A	ENSP00000262097.6:p.Gly235Asp
ENST00000314146.10:c.686G>A	ENSP00000326970.10:p.Gly229Asp
ENST00000381733.8:c.752G>A	ENSP00000371152.4:p.Gly251Asp
ENST00000518746.1:n.521G>A
ENST00000519468.5:n.533G>A
ENST00000520781.5:c.629G>A	ENSP00000427751.1:p.Gly210Asp
ENST00000521542.1:n.417G>A
NM_001127505.1:c.686G>A	NP_001120977.1:p.Gly229Asp
NM_001127505.2:c.686G>A	NP_001120977.1:p.Gly229Asp
NM_004315.4:c.752G>A	NP_004306.3:p.Gly251Asp
NM_004315.5:c.752G>A	NP_004306.3:p.Gly251Asp
NM_177924.3:c.704G>A	NP_808592.2:p.Gly235Asp
NM_177924.4:c.704G>A	NP_808592.2:p.Gly235Asp
XM_005273504.2:c.638G>A	XP_005273561.1:p.Gly213Asp
NM_001363743.1:c.509G>A	NP_001350672.1:p.Gly170Asp
XM_005273504.3:c.638G>A	XP_005273561.1:p.Gly213Asp
NM_177924.5:c.704G>A MANE Select	NP_808592.2:p.Gly235Asp
NM_001127505.3:c.686G>A	NP_001120977.1:p.Gly229Asp
NM_001363743.2:c.509G>A	NP_001350672.1:p.Gly170Asp
NM_004315.6:c.752G>A	NP_004306.3:p.Gly251Asp