Canonical Allele Identifier: CA1768025939

Gene: ASAH1

Linked Data

• dbSNP Id: rs1799864590
• gnomAD v4: 8-18064803-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064803C>T , CM000670.2:g.18064803C>T	GRCh38
NC_000008.10:g.17922312C>T , CM000670.1:g.17922312C>T	GRCh37
NC_000008.9:g.17966592C>T	NCBI36
NG_008985.1:g.25196G>A
NG_008985.2:g.25196G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.431-272G>A	ENSP00000371152.4:n.431-272G>A
ENST00000519545.6:n.400-272G>A
ENST00000520781.6:c.383-1573G>A	ENSP00000427751.1:n.383-1573G>A
ENST00000523593.6:c.*226-272G>A	ENSP00000490700.1:n.*226-272G>A
ENST00000523744.2:n.3869G>A
ENST00000635769.1:c.404-272G>A	ENSP00000490485.1:n.404-272G>A
ENST00000635944.1:c.*219-272G>A	ENSP00000490195.1:n.*219-272G>A
ENST00000635998.1:c.383-272G>A	ENSP00000490506.1:n.383-272G>A
ENST00000636009.1:c.315-1573G>A	ENSP00000489988.1:n.315-1573G>A
ENST00000636033.1:c.*219-272G>A	ENSP00000489617.1:n.*219-272G>A
ENST00000636050.1:c.*226-272G>A	ENSP00000490562.1:n.*226-272G>A
ENST00000636128.1:c.382+2417G>A	ENSP00000489789.1:n.382+2417G>A
ENST00000636160.1:c.*275-272G>A	ENSP00000489651.1:n.*275-272G>A
ENST00000636171.1:c.383-329G>A	ENSP00000489761.1:n.383-329G>A
ENST00000636299.1:c.*154-272G>A	ENSP00000490202.1:n.*154-272G>A
ENST00000636435.1:n.2883G>A
ENST00000636455.1:c.431-272G>A	ENSP00000490502.1:n.431-272G>A
ENST00000636494.1:c.*163-272G>A	ENSP00000490388.1:n.*163-272G>A
ENST00000636577.1:c.383-332G>A	ENSP00000490027.1:n.383-332G>A
ENST00000636691.1:c.188-272G>A	ENSP00000490725.1:n.188-272G>A
ENST00000636701.1:c.*34-272G>A	ENSP00000489800.1:n.*34-272G>A
ENST00000636815.1:c.300-272G>A
ENST00000636823.1:c.188-272G>A	ENSP00000490798.1:n.188-272G>A
ENST00000636828.1:n.2975G>A
ENST00000636920.1:c.*219-272G>A	ENSP00000490437.1:n.*219-272G>A
ENST00000636997.1:c.296-272G>A	ENSP00000490093.1:n.296-272G>A
ENST00000637013.1:c.*595-272G>A	ENSP00000490596.1:n.*595-272G>A
ENST00000637095.1:c.*163-272G>A	ENSP00000490415.1:n.*163-272G>A
ENST00000637244.1:c.*901-272G>A	ENSP00000490188.1:n.*901-272G>A
ENST00000637343.1:n.322G>A
ENST00000637429.1:c.*595-272G>A	ENSP00000490522.1:n.*595-272G>A
ENST00000637484.1:c.*420-1573G>A	ENSP00000490837.1:n.*420-1573G>A
ENST00000637528.1:c.383-335G>A	ENSP00000490801.1:n.383-335G>A
ENST00000637603.1:c.353-272G>A	ENSP00000489979.1:n.353-272G>A
ENST00000637609.1:n.2832G>A
ENST00000637636.1:c.377-272G>A	ENSP00000490112.1:n.377-272G>A
ENST00000637638.1:c.383-272G>A	ENSP00000490774.1:n.383-272G>A
ENST00000637718.1:c.188-272G>A	ENSP00000490133.1:n.188-272G>A
ENST00000637790.2:c.383-272G>A MANE Select	ENSP00000490272.1:n.383-272G>A
ENST00000637857.1:n.105-2380G>A
ENST00000637922.1:c.188-272G>A	ENSP00000490071.1:n.188-272G>A
ENST00000637991.1:c.431-1573G>A	ENSP00000489901.1:n.431-1573G>A
ENST00000638069.1:n.439-272G>A
ENST00000262097.10:c.383-272G>A	ENSP00000262097.6:n.383-272G>A
ENST00000314146.10:c.365-272G>A	ENSP00000326970.10:n.365-272G>A
ENST00000381733.8:c.431-272G>A	ENSP00000371152.4:n.431-272G>A
ENST00000519468.5:n.388+2417G>A
ENST00000519545.5:n.397-272G>A
ENST00000520781.5:c.383-1573G>A	ENSP00000427751.1:n.383-1573G>A
ENST00000523593.5:n.236-272G>A
ENST00000523744.1:n.114G>A
NM_001127505.1:c.365-272G>A	NP_001120977.1:n.365-272G>A
NM_001127505.2:c.365-272G>A	NP_001120977.1:n.365-272G>A
NM_004315.4:c.431-272G>A	NP_004306.3:n.431-272G>A
NM_004315.5:c.431-272G>A	NP_004306.3:n.431-272G>A
NM_177924.3:c.383-272G>A	NP_808592.2:n.383-272G>A
NM_177924.4:c.383-272G>A	NP_808592.2:n.383-272G>A
XM_005273504.2:c.317-272G>A	XP_005273561.1:n.317-272G>A
NM_001363743.1:c.188-272G>A	NP_001350672.1:n.188-272G>A
XM_005273504.3:c.317-272G>A	XP_005273561.1:n.317-272G>A
NM_177924.5:c.383-272G>A MANE Select	NP_808592.2:n.383-272G>A
NM_001127505.3:c.365-272G>A	NP_001120977.1:n.365-272G>A
NM_001363743.2:c.188-272G>A	NP_001350672.1:n.188-272G>A
NM_004315.6:c.431-272G>A	NP_004306.3:n.431-272G>A