Canonical Allele Identifier: CA580091748

Gene: ASAH1

Linked Data

• dbSNP Id: rs1285279808
• gnomAD v2: 8-17922158-C-T
• gnomAD v3: 8-18064649-C-T
• gnomAD v4: 8-18064649-C-T
• MyVariant Identifiers: chr8:g.17922158C>T (hg19) ; chr8:g.18064649C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064649C>T , CM000670.2:g.18064649C>T	GRCh38
NC_000008.10:g.17922158C>T , CM000670.1:g.17922158C>T	GRCh37
NC_000008.9:g.17966438C>T	NCBI36
NG_008985.1:g.25350G>A
NG_008985.2:g.25350G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.431-118G>A	ENSP00000371152.4:n.431-118G>A
ENST00000519545.6:n.400-118G>A
ENST00000520781.6:c.383-1419G>A	ENSP00000427751.1:n.383-1419G>A
ENST00000523593.6:c.*226-118G>A	ENSP00000490700.1:n.*226-118G>A
ENST00000523744.2:n.4023G>A
ENST00000635769.1:c.404-118G>A	ENSP00000490485.1:n.404-118G>A
ENST00000635944.1:c.*219-118G>A	ENSP00000490195.1:n.*219-118G>A
ENST00000635998.1:c.383-118G>A	ENSP00000490506.1:n.383-118G>A
ENST00000636009.1:c.315-1419G>A	ENSP00000489988.1:n.315-1419G>A
ENST00000636033.1:c.*219-118G>A	ENSP00000489617.1:n.*219-118G>A
ENST00000636050.1:c.*226-118G>A	ENSP00000490562.1:n.*226-118G>A
ENST00000636128.1:c.382+2571G>A	ENSP00000489789.1:n.382+2571G>A
ENST00000636160.1:c.*275-118G>A	ENSP00000489651.1:n.*275-118G>A
ENST00000636171.1:c.383-175G>A	ENSP00000489761.1:n.383-175G>A
ENST00000636299.1:c.*154-118G>A	ENSP00000490202.1:n.*154-118G>A
ENST00000636435.1:n.3037G>A
ENST00000636455.1:c.431-118G>A	ENSP00000490502.1:n.431-118G>A
ENST00000636494.1:c.*163-118G>A	ENSP00000490388.1:n.*163-118G>A
ENST00000636563.1:n.44+76G>A
ENST00000636577.1:c.383-178G>A	ENSP00000490027.1:n.383-178G>A
ENST00000636691.1:c.188-118G>A	ENSP00000490725.1:n.188-118G>A
ENST00000636701.1:c.*34-118G>A	ENSP00000489800.1:n.*34-118G>A
ENST00000636815.1:c.300-118G>A
ENST00000636823.1:c.188-118G>A	ENSP00000490798.1:n.188-118G>A
ENST00000636828.1:n.3129G>A
ENST00000636920.1:c.*219-118G>A	ENSP00000490437.1:n.*219-118G>A
ENST00000636997.1:c.296-118G>A	ENSP00000490093.1:n.296-118G>A
ENST00000637013.1:c.*595-118G>A	ENSP00000490596.1:n.*595-118G>A
ENST00000637095.1:c.*163-118G>A	ENSP00000490415.1:n.*163-118G>A
ENST00000637244.1:c.*901-118G>A	ENSP00000490188.1:n.*901-118G>A
ENST00000637343.1:n.476G>A
ENST00000637429.1:c.*595-118G>A	ENSP00000490522.1:n.*595-118G>A
ENST00000637484.1:c.*420-1419G>A	ENSP00000490837.1:n.*420-1419G>A
ENST00000637528.1:c.383-181G>A	ENSP00000490801.1:n.383-181G>A
ENST00000637603.1:c.353-118G>A	ENSP00000489979.1:n.353-118G>A
ENST00000637609.1:n.2986G>A
ENST00000637636.1:c.377-118G>A	ENSP00000490112.1:n.377-118G>A
ENST00000637638.1:c.383-118G>A	ENSP00000490774.1:n.383-118G>A
ENST00000637718.1:c.188-118G>A	ENSP00000490133.1:n.188-118G>A
ENST00000637790.2:c.383-118G>A MANE Select	ENSP00000490272.1:n.383-118G>A
ENST00000637857.1:n.105-2226G>A
ENST00000637922.1:c.188-118G>A	ENSP00000490071.1:n.188-118G>A
ENST00000637991.1:c.431-1419G>A	ENSP00000489901.1:n.431-1419G>A
ENST00000638069.1:n.439-118G>A
ENST00000262097.10:c.383-118G>A	ENSP00000262097.6:n.383-118G>A
ENST00000314146.10:c.365-118G>A	ENSP00000326970.10:n.365-118G>A
ENST00000381733.8:c.431-118G>A	ENSP00000371152.4:n.431-118G>A
ENST00000519468.5:n.389-2282G>A
ENST00000519545.5:n.397-118G>A
ENST00000520781.5:c.383-1419G>A	ENSP00000427751.1:n.383-1419G>A
ENST00000523593.5:n.236-118G>A
ENST00000523744.1:n.268G>A
NM_001127505.1:c.365-118G>A	NP_001120977.1:n.365-118G>A
NM_001127505.2:c.365-118G>A	NP_001120977.1:n.365-118G>A
NM_004315.4:c.431-118G>A	NP_004306.3:n.431-118G>A
NM_004315.5:c.431-118G>A	NP_004306.3:n.431-118G>A
NM_177924.3:c.383-118G>A	NP_808592.2:n.383-118G>A
NM_177924.4:c.383-118G>A	NP_808592.2:n.383-118G>A
XM_005273504.2:c.317-118G>A	XP_005273561.1:n.317-118G>A
NM_001363743.1:c.188-118G>A	NP_001350672.1:n.188-118G>A
XM_005273504.3:c.317-118G>A	XP_005273561.1:n.317-118G>A
NM_177924.5:c.383-118G>A MANE Select	NP_808592.2:n.383-118G>A
NM_001127505.3:c.365-118G>A	NP_001120977.1:n.365-118G>A
NM_001363743.2:c.188-118G>A	NP_001350672.1:n.188-118G>A
NM_004315.6:c.431-118G>A	NP_004306.3:n.431-118G>A