Canonical Allele Identifier: CA459663617

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 1950731
• ClinVar RCV Id: RCV002681447
• dbSNP Id: rs1416335286
• gnomAD v4: 8-18064518-T-G
• MyVariant Identifiers: chr8:g.17922027T>G (hg19) ; chr8:g.18064518T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064518T>G , CM000670.2:g.18064518T>G	GRCh38
NC_000008.10:g.17922027T>G , CM000670.1:g.17922027T>G	GRCh37
NC_000008.9:g.17966307T>G	NCBI36
NG_008985.1:g.25481A>C
NG_008985.2:g.25481A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.444A>C	ENSP00000371152.4:p.Ser148=
ENST00000519545.6:n.413A>C
ENST00000520781.6:c.383-1288A>C	ENSP00000427751.1:n.383-1288A>C
ENST00000523593.6:c.*239A>C	ENSP00000490700.1:n.*239A>C
ENST00000523744.2:n.4154A>C
ENST00000635769.1:c.417A>C	ENSP00000490485.1:p.Ser139=
ENST00000635944.1:c.*232A>C	ENSP00000490195.1:n.*232A>C
ENST00000635998.1:c.396A>C	ENSP00000490506.1:p.Ser132=
ENST00000636009.1:c.315-1288A>C	ENSP00000489988.1:n.315-1288A>C
ENST00000636033.1:c.*232A>C	ENSP00000489617.1:n.*232A>C
ENST00000636050.1:c.*239A>C	ENSP00000490562.1:n.*239A>C
ENST00000636128.1:c.382+2702A>C	ENSP00000489789.1:n.382+2702A>C
ENST00000636160.1:c.*288A>C	ENSP00000489651.1:n.*288A>C
ENST00000636171.1:c.383-44A>C	ENSP00000489761.1:n.383-44A>C
ENST00000636299.1:c.*167A>C	ENSP00000490202.1:n.*167A>C
ENST00000636435.1:n.3168A>C
ENST00000636455.1:c.444A>C	ENSP00000490502.1:p.Ser148=
ENST00000636494.1:c.*176A>C	ENSP00000490388.1:n.*176A>C
ENST00000636563.1:n.58A>C
ENST00000636577.1:c.383-47A>C	ENSP00000490027.1:n.383-47A>C
ENST00000636691.1:c.201A>C	ENSP00000490725.1:p.Ser67=
ENST00000636701.1:c.*47A>C	ENSP00000489800.1:n.*47A>C
ENST00000636815.1:c.313A>C
ENST00000636823.1:c.201A>C	ENSP00000490798.1:p.Ser67=
ENST00000636828.1:n.3260A>C
ENST00000636920.1:c.*232A>C	ENSP00000490437.1:n.*232A>C
ENST00000636997.1:c.309A>C	ENSP00000490093.1:p.Ser103=
ENST00000637013.1:c.*608A>C	ENSP00000490596.1:n.*608A>C
ENST00000637095.1:c.*176A>C	ENSP00000490415.1:n.*176A>C
ENST00000637244.1:c.*914A>C	ENSP00000490188.1:n.*914A>C
ENST00000637343.1:n.607A>C
ENST00000637429.1:c.*608A>C	ENSP00000490522.1:n.*608A>C
ENST00000637484.1:c.*420-1288A>C	ENSP00000490837.1:n.*420-1288A>C
ENST00000637528.1:c.383-50A>C	ENSP00000490801.1:n.383-50A>C
ENST00000637603.1:c.366A>C	ENSP00000489979.1:p.Ser122=
ENST00000637609.1:n.3117A>C
ENST00000637636.1:c.390A>C	ENSP00000490112.1:p.Ser130=
ENST00000637638.1:c.396A>C	ENSP00000490774.1:p.Ser132=
ENST00000637718.1:c.201A>C	ENSP00000490133.1:p.Ser67=
ENST00000637790.2:c.396A>C MANE Select	ENSP00000490272.1:p.Ser132=
ENST00000637857.1:n.105-2095A>C
ENST00000637922.1:c.201A>C	ENSP00000490071.1:p.Ser67=
ENST00000637991.1:c.431-1288A>C	ENSP00000489901.1:n.431-1288A>C
ENST00000638069.1:n.452A>C
ENST00000262097.10:c.396A>C	ENSP00000262097.6:p.Ser132=
ENST00000314146.10:c.378A>C	ENSP00000326970.10:p.Ser126=
ENST00000381733.8:c.444A>C	ENSP00000371152.4:p.Ser148=
ENST00000519468.5:n.389-2151A>C
ENST00000519545.5:n.410A>C
ENST00000520781.5:c.383-1288A>C	ENSP00000427751.1:n.383-1288A>C
ENST00000523593.5:n.249A>C
ENST00000523744.1:n.399A>C
NM_001127505.1:c.378A>C	NP_001120977.1:p.Ser126=
NM_001127505.2:c.378A>C	NP_001120977.1:p.Ser126=
NM_004315.4:c.444A>C	NP_004306.3:p.Ser148=
NM_004315.5:c.444A>C	NP_004306.3:p.Ser148=
NM_177924.3:c.396A>C	NP_808592.2:p.Ser132=
NM_177924.4:c.396A>C	NP_808592.2:p.Ser132=
XM_005273504.2:c.330A>C	XP_005273561.1:p.Ser110=
NM_001363743.1:c.201A>C	NP_001350672.1:p.Ser67=
XM_005273504.3:c.330A>C	XP_005273561.1:p.Ser110=
NM_177924.5:c.396A>C MANE Select	NP_808592.2:p.Ser132=
NM_001127505.3:c.378A>C	NP_001120977.1:p.Ser126=
NM_001363743.2:c.201A>C	NP_001350672.1:p.Ser67=
NM_004315.6:c.444A>C	NP_004306.3:p.Ser148=