Canonical Allele Identifier: CA370431849

Gene: ASAH1

Linked Data

• dbSNP Id: rs1355751897
• gnomAD v3: 8-18064527-C-G
• gnomAD v4: 8-18064527-C-G
• MyVariant Identifiers: chr8:g.17922036C>G (hg19) ; chr8:g.18064527C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064527C>G , CM000670.2:g.18064527C>G	GRCh38
NC_000008.10:g.17922036C>G , CM000670.1:g.17922036C>G	GRCh37
NC_000008.9:g.17966316C>G	NCBI36
NG_008985.1:g.25472G>C
NG_008985.2:g.25472G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.435G>C	ENSP00000371152.4:p.Glu145Asp
ENST00000519545.6:n.404G>C
ENST00000520781.6:c.383-1297G>C	ENSP00000427751.1:n.383-1297G>C
ENST00000523593.6:c.*230G>C	ENSP00000490700.1:n.*230G>C
ENST00000523744.2:n.4145G>C
ENST00000635769.1:c.408G>C	ENSP00000490485.1:p.Glu136Asp
ENST00000635944.1:c.*223G>C	ENSP00000490195.1:n.*223G>C
ENST00000635998.1:c.387G>C	ENSP00000490506.1:p.Glu129Asp
ENST00000636009.1:c.315-1297G>C	ENSP00000489988.1:n.315-1297G>C
ENST00000636033.1:c.*223G>C	ENSP00000489617.1:n.*223G>C
ENST00000636050.1:c.*230G>C	ENSP00000490562.1:n.*230G>C
ENST00000636128.1:c.382+2693G>C	ENSP00000489789.1:n.382+2693G>C
ENST00000636160.1:c.*279G>C	ENSP00000489651.1:n.*279G>C
ENST00000636171.1:c.383-53G>C	ENSP00000489761.1:n.383-53G>C
ENST00000636299.1:c.*158G>C	ENSP00000490202.1:n.*158G>C
ENST00000636435.1:n.3159G>C
ENST00000636455.1:c.435G>C	ENSP00000490502.1:p.Glu145Asp
ENST00000636494.1:c.*167G>C	ENSP00000490388.1:n.*167G>C
ENST00000636563.1:n.49G>C
ENST00000636577.1:c.383-56G>C	ENSP00000490027.1:n.383-56G>C
ENST00000636691.1:c.192G>C	ENSP00000490725.1:p.Glu64Asp
ENST00000636701.1:c.*38G>C	ENSP00000489800.1:n.*38G>C
ENST00000636815.1:c.304G>C
ENST00000636823.1:c.192G>C	ENSP00000490798.1:p.Glu64Asp
ENST00000636828.1:n.3251G>C
ENST00000636920.1:c.*223G>C	ENSP00000490437.1:n.*223G>C
ENST00000636997.1:c.300G>C	ENSP00000490093.1:p.Glu100Asp
ENST00000637013.1:c.*599G>C	ENSP00000490596.1:n.*599G>C
ENST00000637095.1:c.*167G>C	ENSP00000490415.1:n.*167G>C
ENST00000637244.1:c.*905G>C	ENSP00000490188.1:n.*905G>C
ENST00000637343.1:n.598G>C
ENST00000637429.1:c.*599G>C	ENSP00000490522.1:n.*599G>C
ENST00000637484.1:c.*420-1297G>C	ENSP00000490837.1:n.*420-1297G>C
ENST00000637528.1:c.383-59G>C	ENSP00000490801.1:n.383-59G>C
ENST00000637603.1:c.357G>C	ENSP00000489979.1:p.Glu119Asp
ENST00000637609.1:n.3108G>C
ENST00000637636.1:c.381G>C	ENSP00000490112.1:p.Glu127Asp
ENST00000637638.1:c.387G>C	ENSP00000490774.1:p.Glu129Asp
ENST00000637718.1:c.192G>C	ENSP00000490133.1:p.Glu64Asp
ENST00000637790.2:c.387G>C MANE Select	ENSP00000490272.1:p.Glu129Asp
ENST00000637857.1:n.105-2104G>C
ENST00000637922.1:c.192G>C	ENSP00000490071.1:p.Glu64Asp
ENST00000637991.1:c.431-1297G>C	ENSP00000489901.1:n.431-1297G>C
ENST00000638069.1:n.443G>C
ENST00000262097.10:c.387G>C	ENSP00000262097.6:p.Glu129Asp
ENST00000314146.10:c.369G>C	ENSP00000326970.10:p.Glu123Asp
ENST00000381733.8:c.435G>C	ENSP00000371152.4:p.Glu145Asp
ENST00000519468.5:n.389-2160G>C
ENST00000519545.5:n.401G>C
ENST00000520781.5:c.383-1297G>C	ENSP00000427751.1:n.383-1297G>C
ENST00000523593.5:n.240G>C
ENST00000523744.1:n.390G>C
NM_001127505.1:c.369G>C	NP_001120977.1:p.Glu123Asp
NM_001127505.2:c.369G>C	NP_001120977.1:p.Glu123Asp
NM_004315.4:c.435G>C	NP_004306.3:p.Glu145Asp
NM_004315.5:c.435G>C	NP_004306.3:p.Glu145Asp
NM_177924.3:c.387G>C	NP_808592.2:p.Glu129Asp
NM_177924.4:c.387G>C	NP_808592.2:p.Glu129Asp
XM_005273504.2:c.321G>C	XP_005273561.1:p.Glu107Asp
NM_001363743.1:c.192G>C	NP_001350672.1:p.Glu64Asp
XM_005273504.3:c.321G>C	XP_005273561.1:p.Glu107Asp
NM_177924.5:c.387G>C MANE Select	NP_808592.2:p.Glu129Asp
NM_001127505.3:c.369G>C	NP_001120977.1:p.Glu123Asp
NM_001363743.2:c.192G>C	NP_001350672.1:p.Glu64Asp
NM_004315.6:c.435G>C	NP_004306.3:p.Glu145Asp