Canonical Allele Identifier: CA2686315226

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18064724-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064724C>A , CM000670.2:g.18064724C>A	GRCh38
NC_000008.10:g.17922233C>A , CM000670.1:g.17922233C>A	GRCh37
NC_000008.9:g.17966513C>A	NCBI36
NG_008985.1:g.25275G>T
NG_008985.2:g.25275G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.431-193G>T	ENSP00000371152.4:n.431-193G>T
ENST00000519545.6:n.400-193G>T
ENST00000520781.6:c.383-1494G>T	ENSP00000427751.1:n.383-1494G>T
ENST00000523593.6:c.*226-193G>T	ENSP00000490700.1:n.*226-193G>T
ENST00000523744.2:n.3948G>T
ENST00000635769.1:c.404-193G>T	ENSP00000490485.1:n.404-193G>T
ENST00000635944.1:c.*219-193G>T	ENSP00000490195.1:n.*219-193G>T
ENST00000635998.1:c.383-193G>T	ENSP00000490506.1:n.383-193G>T
ENST00000636009.1:c.315-1494G>T	ENSP00000489988.1:n.315-1494G>T
ENST00000636033.1:c.*219-193G>T	ENSP00000489617.1:n.*219-193G>T
ENST00000636050.1:c.*226-193G>T	ENSP00000490562.1:n.*226-193G>T
ENST00000636128.1:c.382+2496G>T	ENSP00000489789.1:n.382+2496G>T
ENST00000636160.1:c.*275-193G>T	ENSP00000489651.1:n.*275-193G>T
ENST00000636171.1:c.383-250G>T	ENSP00000489761.1:n.383-250G>T
ENST00000636299.1:c.*154-193G>T	ENSP00000490202.1:n.*154-193G>T
ENST00000636435.1:n.2962G>T
ENST00000636455.1:c.431-193G>T	ENSP00000490502.1:n.431-193G>T
ENST00000636494.1:c.*163-193G>T	ENSP00000490388.1:n.*163-193G>T
ENST00000636563.1:n.44+1G>T
ENST00000636577.1:c.383-253G>T	ENSP00000490027.1:n.383-253G>T
ENST00000636691.1:c.188-193G>T	ENSP00000490725.1:n.188-193G>T
ENST00000636701.1:c.*34-193G>T	ENSP00000489800.1:n.*34-193G>T
ENST00000636815.1:c.300-193G>T
ENST00000636823.1:c.188-193G>T	ENSP00000490798.1:n.188-193G>T
ENST00000636828.1:n.3054G>T
ENST00000636920.1:c.*219-193G>T	ENSP00000490437.1:n.*219-193G>T
ENST00000636997.1:c.296-193G>T	ENSP00000490093.1:n.296-193G>T
ENST00000637013.1:c.*595-193G>T	ENSP00000490596.1:n.*595-193G>T
ENST00000637095.1:c.*163-193G>T	ENSP00000490415.1:n.*163-193G>T
ENST00000637244.1:c.*901-193G>T	ENSP00000490188.1:n.*901-193G>T
ENST00000637343.1:n.401G>T
ENST00000637429.1:c.*595-193G>T	ENSP00000490522.1:n.*595-193G>T
ENST00000637484.1:c.*420-1494G>T	ENSP00000490837.1:n.*420-1494G>T
ENST00000637528.1:c.383-256G>T	ENSP00000490801.1:n.383-256G>T
ENST00000637603.1:c.353-193G>T	ENSP00000489979.1:n.353-193G>T
ENST00000637609.1:n.2911G>T
ENST00000637636.1:c.377-193G>T	ENSP00000490112.1:n.377-193G>T
ENST00000637638.1:c.383-193G>T	ENSP00000490774.1:n.383-193G>T
ENST00000637718.1:c.188-193G>T	ENSP00000490133.1:n.188-193G>T
ENST00000637790.2:c.383-193G>T MANE Select	ENSP00000490272.1:n.383-193G>T
ENST00000637857.1:n.105-2301G>T
ENST00000637922.1:c.188-193G>T	ENSP00000490071.1:n.188-193G>T
ENST00000637991.1:c.431-1494G>T	ENSP00000489901.1:n.431-1494G>T
ENST00000638069.1:n.439-193G>T
ENST00000262097.10:c.383-193G>T	ENSP00000262097.6:n.383-193G>T
ENST00000314146.10:c.365-193G>T	ENSP00000326970.10:n.365-193G>T
ENST00000381733.8:c.431-193G>T	ENSP00000371152.4:n.431-193G>T
ENST00000519468.5:n.389-2357G>T
ENST00000519545.5:n.397-193G>T
ENST00000520781.5:c.383-1494G>T	ENSP00000427751.1:n.383-1494G>T
ENST00000523593.5:n.236-193G>T
ENST00000523744.1:n.193G>T
NM_001127505.1:c.365-193G>T	NP_001120977.1:n.365-193G>T
NM_001127505.2:c.365-193G>T	NP_001120977.1:n.365-193G>T
NM_004315.4:c.431-193G>T	NP_004306.3:n.431-193G>T
NM_004315.5:c.431-193G>T	NP_004306.3:n.431-193G>T
NM_177924.3:c.383-193G>T	NP_808592.2:n.383-193G>T
NM_177924.4:c.383-193G>T	NP_808592.2:n.383-193G>T
XM_005273504.2:c.317-193G>T	XP_005273561.1:n.317-193G>T
NM_001363743.1:c.188-193G>T	NP_001350672.1:n.188-193G>T
XM_005273504.3:c.317-193G>T	XP_005273561.1:n.317-193G>T
NM_177924.5:c.383-193G>T MANE Select	NP_808592.2:n.383-193G>T
NM_001127505.3:c.365-193G>T	NP_001120977.1:n.365-193G>T
NM_001363743.2:c.188-193G>T	NP_001350672.1:n.188-193G>T
NM_004315.6:c.431-193G>T	NP_004306.3:n.431-193G>T