Canonical Allele Identifier: CA185930

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 180643
• ClinVar RCV Id: RCV000157605 ; RCV000853058 ; RCV004551355
• dbSNP Id: rs200455852
• ExAC: 8:17921967 T / G
• gnomAD v2: 8-17921967-T-G
• gnomAD v3: 8-18064458-T-G
• gnomAD v4: 8-18064458-T-G
• MyVariant Identifiers: chr8:g.17921967T>G (hg19) ; chr8:g.18064458T>G (hg38)
• PubMed: PMID:24164096

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064458T>G , CM000670.2:g.18064458T>G	GRCh38
NC_000008.10:g.17921967T>G , CM000670.1:g.17921967T>G	GRCh37
NC_000008.9:g.17966247T>G	NCBI36
NG_008985.1:g.25541A>C
NG_008985.2:g.25541A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.504A>C	ENSP00000371152.4:p.Lys168Asn
ENST00000519545.6:n.473A>C
ENST00000520781.6:c.383-1228A>C	ENSP00000427751.1:n.383-1228A>C
ENST00000523593.6:c.*299A>C	ENSP00000490700.1:n.*299A>C
ENST00000523744.2:n.4214A>C
ENST00000635769.1:c.477A>C	ENSP00000490485.1:p.Lys159Asn
ENST00000635944.1:c.*292A>C	ENSP00000490195.1:n.*292A>C
ENST00000635998.1:c.456A>C	ENSP00000490506.1:p.Lys152Asn
ENST00000636009.1:c.315-1228A>C	ENSP00000489988.1:n.315-1228A>C
ENST00000636033.1:c.*292A>C	ENSP00000489617.1:n.*292A>C
ENST00000636050.1:c.*299A>C	ENSP00000490562.1:n.*299A>C
ENST00000636128.1:c.382+2762A>C	ENSP00000489789.1:n.382+2762A>C
ENST00000636160.1:c.*348A>C	ENSP00000489651.1:n.*348A>C
ENST00000636171.1:c.399A>C	ENSP00000489761.1:p.Lys133Asn
ENST00000636299.1:c.*227A>C	ENSP00000490202.1:n.*227A>C
ENST00000636435.1:n.3228A>C
ENST00000636455.1:c.504A>C	ENSP00000490502.1:p.Lys168Asn
ENST00000636494.1:c.*236A>C	ENSP00000490388.1:n.*236A>C
ENST00000636563.1:n.118A>C
ENST00000636577.1:c.396A>C	ENSP00000490027.1:p.Lys132Asn
ENST00000636691.1:c.261A>C	ENSP00000490725.1:p.Lys87Asn
ENST00000636701.1:c.*107A>C	ENSP00000489800.1:n.*107A>C
ENST00000636815.1:c.373A>C
ENST00000636823.1:c.261A>C	ENSP00000490798.1:p.Lys87Asn
ENST00000636828.1:n.3320A>C
ENST00000636920.1:c.*292A>C	ENSP00000490437.1:n.*292A>C
ENST00000636997.1:c.369A>C	ENSP00000490093.1:p.Lys123Asn
ENST00000637013.1:c.*668A>C	ENSP00000490596.1:n.*668A>C
ENST00000637095.1:c.*236A>C	ENSP00000490415.1:n.*236A>C
ENST00000637244.1:c.*974A>C	ENSP00000490188.1:n.*974A>C
ENST00000637343.1:n.667A>C
ENST00000637429.1:c.*668A>C	ENSP00000490522.1:n.*668A>C
ENST00000637484.1:c.*420-1228A>C	ENSP00000490837.1:n.*420-1228A>C
ENST00000637528.1:c.393A>C	ENSP00000490801.1:p.Lys131Asn
ENST00000637603.1:c.426A>C	ENSP00000489979.1:p.Lys142Asn
ENST00000637609.1:n.3177A>C
ENST00000637636.1:c.450A>C	ENSP00000490112.1:p.Lys150Asn
ENST00000637638.1:c.456A>C	ENSP00000490774.1:p.Lys152Asn
ENST00000637718.1:c.261A>C	ENSP00000490133.1:p.Lys87Asn
ENST00000637790.2:c.456A>C MANE Select	ENSP00000490272.1:p.Lys152Asn
ENST00000637857.1:n.105-2035A>C
ENST00000637922.1:c.261A>C	ENSP00000490071.1:p.Lys87Asn
ENST00000637991.1:c.431-1228A>C	ENSP00000489901.1:n.431-1228A>C
ENST00000638069.1:n.512A>C
ENST00000262097.10:c.456A>C	ENSP00000262097.6:p.Lys152Asn
ENST00000314146.10:c.438A>C	ENSP00000326970.10:p.Lys146Asn
ENST00000381733.8:c.504A>C	ENSP00000371152.4:p.Lys168Asn
ENST00000519468.5:n.389-2091A>C
ENST00000519545.5:n.470A>C
ENST00000520781.5:c.383-1228A>C	ENSP00000427751.1:n.383-1228A>C
ENST00000523593.5:n.309A>C
ENST00000523744.1:n.459A>C
NM_001127505.1:c.438A>C	NP_001120977.1:p.Lys146Asn
NM_001127505.2:c.438A>C	NP_001120977.1:p.Lys146Asn
NM_004315.4:c.504A>C	NP_004306.3:p.Lys168Asn
NM_004315.5:c.504A>C	NP_004306.3:p.Lys168Asn
NM_177924.3:c.456A>C	NP_808592.2:p.Lys152Asn
NM_177924.4:c.456A>C	NP_808592.2:p.Lys152Asn
XM_005273504.2:c.390A>C	XP_005273561.1:p.Lys130Asn
NM_001363743.1:c.261A>C	NP_001350672.1:p.Lys87Asn
XM_005273504.3:c.390A>C	XP_005273561.1:p.Lys130Asn
NM_177924.5:c.456A>C MANE Select	NP_808592.2:p.Lys152Asn
NM_001127505.3:c.438A>C	NP_001120977.1:p.Lys146Asn
NM_001363743.2:c.261A>C	NP_001350672.1:p.Lys87Asn
NM_004315.6:c.504A>C	NP_004306.3:p.Lys168Asn