Canonical Allele Identifier: CA173143680

Gene: ASAH1

Linked Data

• dbSNP Id: rs557674926
• gnomAD v2: 8-17922413-T-G
• gnomAD v3: 8-18064904-T-G
• gnomAD v4: 8-18064904-T-G
• MyVariant Identifiers: chr8:g.17922413T>G (hg19) ; chr8:g.18064904T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064904T>G , CM000670.2:g.18064904T>G	GRCh38
NC_000008.10:g.17922413T>G , CM000670.1:g.17922413T>G	GRCh37
NC_000008.9:g.17966693T>G	NCBI36
NG_008985.1:g.25095A>C
NG_008985.2:g.25095A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.431-373A>C	ENSP00000371152.4:n.431-373A>C
ENST00000519545.6:n.400-373A>C
ENST00000520781.6:c.383-1674A>C	ENSP00000427751.1:n.383-1674A>C
ENST00000523593.6:c.*226-373A>C	ENSP00000490700.1:n.*226-373A>C
ENST00000523744.2:n.3768A>C
ENST00000635769.1:c.404-373A>C	ENSP00000490485.1:n.404-373A>C
ENST00000635944.1:c.*219-373A>C	ENSP00000490195.1:n.*219-373A>C
ENST00000635998.1:c.383-373A>C	ENSP00000490506.1:n.383-373A>C
ENST00000636009.1:c.315-1674A>C	ENSP00000489988.1:n.315-1674A>C
ENST00000636033.1:c.*219-373A>C	ENSP00000489617.1:n.*219-373A>C
ENST00000636050.1:c.*226-373A>C	ENSP00000490562.1:n.*226-373A>C
ENST00000636128.1:c.382+2316A>C	ENSP00000489789.1:n.382+2316A>C
ENST00000636160.1:c.*275-373A>C	ENSP00000489651.1:n.*275-373A>C
ENST00000636171.1:c.383-430A>C	ENSP00000489761.1:n.383-430A>C
ENST00000636299.1:c.*154-373A>C	ENSP00000490202.1:n.*154-373A>C
ENST00000636435.1:n.2782A>C
ENST00000636455.1:c.431-373A>C	ENSP00000490502.1:n.431-373A>C
ENST00000636494.1:c.*163-373A>C	ENSP00000490388.1:n.*163-373A>C
ENST00000636577.1:c.383-433A>C	ENSP00000490027.1:n.383-433A>C
ENST00000636691.1:c.188-373A>C	ENSP00000490725.1:n.188-373A>C
ENST00000636701.1:c.*34-373A>C	ENSP00000489800.1:n.*34-373A>C
ENST00000636815.1:c.300-373A>C
ENST00000636823.1:c.188-373A>C	ENSP00000490798.1:n.188-373A>C
ENST00000636828.1:n.2874A>C
ENST00000636920.1:c.*219-373A>C	ENSP00000490437.1:n.*219-373A>C
ENST00000636997.1:c.296-373A>C	ENSP00000490093.1:n.296-373A>C
ENST00000637013.1:c.*595-373A>C	ENSP00000490596.1:n.*595-373A>C
ENST00000637095.1:c.*163-373A>C	ENSP00000490415.1:n.*163-373A>C
ENST00000637244.1:c.*901-373A>C	ENSP00000490188.1:n.*901-373A>C
ENST00000637343.1:n.221A>C
ENST00000637429.1:c.*595-373A>C	ENSP00000490522.1:n.*595-373A>C
ENST00000637484.1:c.*420-1674A>C	ENSP00000490837.1:n.*420-1674A>C
ENST00000637528.1:c.383-436A>C	ENSP00000490801.1:n.383-436A>C
ENST00000637603.1:c.353-373A>C	ENSP00000489979.1:n.353-373A>C
ENST00000637609.1:n.2731A>C
ENST00000637636.1:c.377-373A>C	ENSP00000490112.1:n.377-373A>C
ENST00000637638.1:c.383-373A>C	ENSP00000490774.1:n.383-373A>C
ENST00000637718.1:c.188-373A>C	ENSP00000490133.1:n.188-373A>C
ENST00000637790.2:c.383-373A>C MANE Select	ENSP00000490272.1:n.383-373A>C
ENST00000637857.1:n.104+2316A>C
ENST00000637922.1:c.188-373A>C	ENSP00000490071.1:n.188-373A>C
ENST00000637991.1:c.431-1674A>C	ENSP00000489901.1:n.431-1674A>C
ENST00000638069.1:n.439-373A>C
ENST00000262097.10:c.383-373A>C	ENSP00000262097.6:n.383-373A>C
ENST00000314146.10:c.365-373A>C	ENSP00000326970.10:n.365-373A>C
ENST00000381733.8:c.431-373A>C	ENSP00000371152.4:n.431-373A>C
ENST00000519468.5:n.388+2316A>C
ENST00000519545.5:n.397-373A>C
ENST00000520781.5:c.383-1674A>C	ENSP00000427751.1:n.383-1674A>C
ENST00000523593.5:n.236-373A>C
ENST00000523744.1:n.13A>C
NM_001127505.1:c.365-373A>C	NP_001120977.1:n.365-373A>C
NM_001127505.2:c.365-373A>C	NP_001120977.1:n.365-373A>C
NM_004315.4:c.431-373A>C	NP_004306.3:n.431-373A>C
NM_004315.5:c.431-373A>C	NP_004306.3:n.431-373A>C
NM_177924.3:c.383-373A>C	NP_808592.2:n.383-373A>C
NM_177924.4:c.383-373A>C	NP_808592.2:n.383-373A>C
XM_005273504.2:c.317-373A>C	XP_005273561.1:n.317-373A>C
NM_001363743.1:c.188-373A>C	NP_001350672.1:n.188-373A>C
XM_005273504.3:c.317-373A>C	XP_005273561.1:n.317-373A>C
NM_177924.5:c.383-373A>C MANE Select	NP_808592.2:n.383-373A>C
NM_001127505.3:c.365-373A>C	NP_001120977.1:n.365-373A>C
NM_001363743.2:c.188-373A>C	NP_001350672.1:n.188-373A>C
NM_004315.6:c.431-373A>C	NP_004306.3:n.431-373A>C