Canonical Allele Identifier: CA4650868

Gene: ASAH1

Linked Data

• dbSNP Id: rs769803714
• ExAC: 8:17922070 T / A
• gnomAD v2: 8-17922070-T-A
• gnomAD v3: 8-18064561-T-A
• gnomAD v4: 8-18064561-T-A
• MyVariant Identifiers: chr8:g.17922070T>A (hg19) ; chr8:g.18064561T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064561T>A , CM000670.2:g.18064561T>A	GRCh38
NC_000008.10:g.17922070T>A , CM000670.1:g.17922070T>A	GRCh37
NC_000008.9:g.17966350T>A	NCBI36
NG_008985.1:g.25438A>T
NG_008985.2:g.25438A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.431-30A>T	ENSP00000371152.4:n.431-30A>T
ENST00000519545.6:n.400-30A>T
ENST00000520781.6:c.383-1331A>T	ENSP00000427751.1:n.383-1331A>T
ENST00000523593.6:c.*226-30A>T	ENSP00000490700.1:n.*226-30A>T
ENST00000523744.2:n.4111A>T
ENST00000635769.1:c.404-30A>T	ENSP00000490485.1:n.404-30A>T
ENST00000635944.1:c.*219-30A>T	ENSP00000490195.1:n.*219-30A>T
ENST00000635998.1:c.383-30A>T	ENSP00000490506.1:n.383-30A>T
ENST00000636009.1:c.315-1331A>T	ENSP00000489988.1:n.315-1331A>T
ENST00000636033.1:c.*219-30A>T	ENSP00000489617.1:n.*219-30A>T
ENST00000636050.1:c.*226-30A>T	ENSP00000490562.1:n.*226-30A>T
ENST00000636128.1:c.382+2659A>T	ENSP00000489789.1:n.382+2659A>T
ENST00000636160.1:c.*275-30A>T	ENSP00000489651.1:n.*275-30A>T
ENST00000636171.1:c.383-87A>T	ENSP00000489761.1:n.383-87A>T
ENST00000636299.1:c.*154-30A>T	ENSP00000490202.1:n.*154-30A>T
ENST00000636435.1:n.3125A>T
ENST00000636455.1:c.431-30A>T	ENSP00000490502.1:n.431-30A>T
ENST00000636494.1:c.*163-30A>T	ENSP00000490388.1:n.*163-30A>T
ENST00000636563.1:n.45-30A>T
ENST00000636577.1:c.383-90A>T	ENSP00000490027.1:n.383-90A>T
ENST00000636691.1:c.188-30A>T	ENSP00000490725.1:n.188-30A>T
ENST00000636701.1:c.*34-30A>T	ENSP00000489800.1:n.*34-30A>T
ENST00000636815.1:c.300-30A>T
ENST00000636823.1:c.188-30A>T	ENSP00000490798.1:n.188-30A>T
ENST00000636828.1:n.3217A>T
ENST00000636920.1:c.*219-30A>T	ENSP00000490437.1:n.*219-30A>T
ENST00000636997.1:c.296-30A>T	ENSP00000490093.1:n.296-30A>T
ENST00000637013.1:c.*595-30A>T	ENSP00000490596.1:n.*595-30A>T
ENST00000637095.1:c.*163-30A>T	ENSP00000490415.1:n.*163-30A>T
ENST00000637244.1:c.*901-30A>T	ENSP00000490188.1:n.*901-30A>T
ENST00000637343.1:n.564A>T
ENST00000637429.1:c.*595-30A>T	ENSP00000490522.1:n.*595-30A>T
ENST00000637484.1:c.*420-1331A>T	ENSP00000490837.1:n.*420-1331A>T
ENST00000637528.1:c.383-93A>T	ENSP00000490801.1:n.383-93A>T
ENST00000637603.1:c.353-30A>T	ENSP00000489979.1:n.353-30A>T
ENST00000637609.1:n.3074A>T
ENST00000637636.1:c.377-30A>T	ENSP00000490112.1:n.377-30A>T
ENST00000637638.1:c.383-30A>T	ENSP00000490774.1:n.383-30A>T
ENST00000637718.1:c.188-30A>T	ENSP00000490133.1:n.188-30A>T
ENST00000637790.2:c.383-30A>T MANE Select	ENSP00000490272.1:n.383-30A>T
ENST00000637857.1:n.105-2138A>T
ENST00000637922.1:c.188-30A>T	ENSP00000490071.1:n.188-30A>T
ENST00000637991.1:c.431-1331A>T	ENSP00000489901.1:n.431-1331A>T
ENST00000638069.1:n.439-30A>T
ENST00000262097.10:c.383-30A>T	ENSP00000262097.6:n.383-30A>T
ENST00000314146.10:c.365-30A>T	ENSP00000326970.10:n.365-30A>T
ENST00000381733.8:c.431-30A>T	ENSP00000371152.4:n.431-30A>T
ENST00000519468.5:n.389-2194A>T
ENST00000519545.5:n.397-30A>T
ENST00000520781.5:c.383-1331A>T	ENSP00000427751.1:n.383-1331A>T
ENST00000523593.5:n.236-30A>T
ENST00000523744.1:n.356A>T
NM_001127505.1:c.365-30A>T	NP_001120977.1:n.365-30A>T
NM_001127505.2:c.365-30A>T	NP_001120977.1:n.365-30A>T
NM_004315.4:c.431-30A>T	NP_004306.3:n.431-30A>T
NM_004315.5:c.431-30A>T	NP_004306.3:n.431-30A>T
NM_177924.3:c.383-30A>T	NP_808592.2:n.383-30A>T
NM_177924.4:c.383-30A>T	NP_808592.2:n.383-30A>T
XM_005273504.2:c.317-30A>T	XP_005273561.1:n.317-30A>T
NM_001363743.1:c.188-30A>T	NP_001350672.1:n.188-30A>T
XM_005273504.3:c.317-30A>T	XP_005273561.1:n.317-30A>T
NM_177924.5:c.383-30A>T MANE Select	NP_808592.2:n.383-30A>T
NM_001127505.3:c.365-30A>T	NP_001120977.1:n.365-30A>T
NM_001363743.2:c.188-30A>T	NP_001350672.1:n.188-30A>T
NM_004315.6:c.431-30A>T	NP_004306.3:n.431-30A>T