Canonical Allele Identifier: CA4650864

Gene: ASAH1

Linked Data

• dbSNP Id: rs768657209
• ExAC: 8:17922038 C / T
• gnomAD v2: 8-17922038-C-T
• MyVariant Identifiers: chr8:g.17922038C>T (hg19) ; chr8:g.18064529C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064529C>T , CM000670.2:g.18064529C>T	GRCh38
NC_000008.10:g.17922038C>T , CM000670.1:g.17922038C>T	GRCh37
NC_000008.9:g.17966318C>T	NCBI36
NG_008985.1:g.25470G>A
NG_008985.2:g.25470G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.433G>A	ENSP00000371152.4:p.Glu145Lys
ENST00000519545.6:n.402G>A
ENST00000520781.6:c.383-1299G>A	ENSP00000427751.1:n.383-1299G>A
ENST00000523593.6:c.*228G>A	ENSP00000490700.1:n.*228G>A
ENST00000523744.2:n.4143G>A
ENST00000635769.1:c.406G>A	ENSP00000490485.1:p.Glu136Lys
ENST00000635944.1:c.*221G>A	ENSP00000490195.1:n.*221G>A
ENST00000635998.1:c.385G>A	ENSP00000490506.1:p.Glu129Lys
ENST00000636009.1:c.315-1299G>A	ENSP00000489988.1:n.315-1299G>A
ENST00000636033.1:c.*221G>A	ENSP00000489617.1:n.*221G>A
ENST00000636050.1:c.*228G>A	ENSP00000490562.1:n.*228G>A
ENST00000636128.1:c.382+2691G>A	ENSP00000489789.1:n.382+2691G>A
ENST00000636160.1:c.*277G>A	ENSP00000489651.1:n.*277G>A
ENST00000636171.1:c.383-55G>A	ENSP00000489761.1:n.383-55G>A
ENST00000636299.1:c.*156G>A	ENSP00000490202.1:n.*156G>A
ENST00000636435.1:n.3157G>A
ENST00000636455.1:c.433G>A	ENSP00000490502.1:p.Glu145Lys
ENST00000636494.1:c.*165G>A	ENSP00000490388.1:n.*165G>A
ENST00000636563.1:n.47G>A
ENST00000636577.1:c.383-58G>A	ENSP00000490027.1:n.383-58G>A
ENST00000636691.1:c.190G>A	ENSP00000490725.1:p.Glu64Lys
ENST00000636701.1:c.*36G>A	ENSP00000489800.1:n.*36G>A
ENST00000636815.1:c.302G>A
ENST00000636823.1:c.190G>A	ENSP00000490798.1:p.Glu64Lys
ENST00000636828.1:n.3249G>A
ENST00000636920.1:c.*221G>A	ENSP00000490437.1:n.*221G>A
ENST00000636997.1:c.298G>A	ENSP00000490093.1:p.Glu100Lys
ENST00000637013.1:c.*597G>A	ENSP00000490596.1:n.*597G>A
ENST00000637095.1:c.*165G>A	ENSP00000490415.1:n.*165G>A
ENST00000637244.1:c.*903G>A	ENSP00000490188.1:n.*903G>A
ENST00000637343.1:n.596G>A
ENST00000637429.1:c.*597G>A	ENSP00000490522.1:n.*597G>A
ENST00000637484.1:c.*420-1299G>A	ENSP00000490837.1:n.*420-1299G>A
ENST00000637528.1:c.383-61G>A	ENSP00000490801.1:n.383-61G>A
ENST00000637603.1:c.355G>A	ENSP00000489979.1:p.Glu119Lys
ENST00000637609.1:n.3106G>A
ENST00000637636.1:c.379G>A	ENSP00000490112.1:p.Glu127Lys
ENST00000637638.1:c.385G>A	ENSP00000490774.1:p.Glu129Lys
ENST00000637718.1:c.190G>A	ENSP00000490133.1:p.Glu64Lys
ENST00000637790.2:c.385G>A MANE Select	ENSP00000490272.1:p.Glu129Lys
ENST00000637857.1:n.105-2106G>A
ENST00000637922.1:c.190G>A	ENSP00000490071.1:p.Glu64Lys
ENST00000637991.1:c.431-1299G>A	ENSP00000489901.1:n.431-1299G>A
ENST00000638069.1:n.441G>A
ENST00000262097.10:c.385G>A	ENSP00000262097.6:p.Glu129Lys
ENST00000314146.10:c.367G>A	ENSP00000326970.10:p.Glu123Lys
ENST00000381733.8:c.433G>A	ENSP00000371152.4:p.Glu145Lys
ENST00000519468.5:n.389-2162G>A
ENST00000519545.5:n.399G>A
ENST00000520781.5:c.383-1299G>A	ENSP00000427751.1:n.383-1299G>A
ENST00000523593.5:n.238G>A
ENST00000523744.1:n.388G>A
NM_001127505.1:c.367G>A	NP_001120977.1:p.Glu123Lys
NM_001127505.2:c.367G>A	NP_001120977.1:p.Glu123Lys
NM_004315.4:c.433G>A	NP_004306.3:p.Glu145Lys
NM_004315.5:c.433G>A	NP_004306.3:p.Glu145Lys
NM_177924.3:c.385G>A	NP_808592.2:p.Glu129Lys
NM_177924.4:c.385G>A	NP_808592.2:p.Glu129Lys
XM_005273504.2:c.319G>A	XP_005273561.1:p.Glu107Lys
NM_001363743.1:c.190G>A	NP_001350672.1:p.Glu64Lys
XM_005273504.3:c.319G>A	XP_005273561.1:p.Glu107Lys
NM_177924.5:c.385G>A MANE Select	NP_808592.2:p.Glu129Lys
NM_001127505.3:c.367G>A	NP_001120977.1:p.Glu123Lys
NM_001363743.2:c.190G>A	NP_001350672.1:p.Glu64Lys
NM_004315.6:c.433G>A	NP_004306.3:p.Glu145Lys