Canonical Allele Identifier: CA370429419

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 1383909
• ClinVar RCV Id: RCV001924707
• dbSNP Id: rs1799694850
• MyVariant Identifiers: chr8:g.17918939T>G (hg19) ; chr8:g.18061430T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061430T>G , CM000670.2:g.18061430T>G	GRCh38
NC_000008.10:g.17918939T>G , CM000670.1:g.17918939T>G	GRCh37
NC_000008.9:g.17963219T>G	NCBI36
NG_008985.1:g.28569A>C
NG_008985.2:g.28569A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.780A>C	ENSP00000371152.4:p.Lys260Asn
ENST00000517409.2:n.700A>C
ENST00000518746.2:n.2418A>C
ENST00000519545.6:n.749A>C
ENST00000520781.6:c.657A>C	ENSP00000427751.1:p.Lys219Asn
ENST00000521542.2:n.40A>C
ENST00000635756.1:c.145A>C
ENST00000635944.1:c.*568A>C	ENSP00000490195.1:n.*568A>C
ENST00000635998.1:c.732A>C	ENSP00000490506.1:p.Lys244Asn
ENST00000636009.1:c.589A>C	ENSP00000489988.1:n.589A>C
ENST00000636033.1:c.*568A>C	ENSP00000489617.1:n.*568A>C
ENST00000636050.1:c.*575A>C	ENSP00000490562.1:n.*575A>C
ENST00000636128.1:c.411A>C	ENSP00000489789.1:p.Lys137Asn
ENST00000636160.1:c.*624A>C	ENSP00000489651.1:n.*624A>C
ENST00000636171.1:c.675A>C	ENSP00000489761.1:p.Lys225Asn
ENST00000636455.1:c.780A>C	ENSP00000490502.1:p.Lys260Asn
ENST00000636494.1:c.*512A>C	ENSP00000490388.1:n.*512A>C
ENST00000636563.1:n.394A>C
ENST00000636577.1:c.672A>C	ENSP00000490027.1:p.Lys224Asn
ENST00000636691.1:c.537A>C	ENSP00000490725.1:p.Lys179Asn
ENST00000636701.1:c.*383A>C	ENSP00000489800.1:n.*383A>C
ENST00000636815.1:c.649A>C
ENST00000636920.1:c.*568A>C	ENSP00000490437.1:n.*568A>C
ENST00000636997.1:c.645A>C	ENSP00000490093.1:p.Lys215Asn
ENST00000637013.1:c.*1100A>C	ENSP00000490596.1:n.*1100A>C
ENST00000637014.1:n.1139A>C
ENST00000637095.1:c.*512A>C	ENSP00000490415.1:n.*512A>C
ENST00000637244.1:c.*1250A>C	ENSP00000490188.1:n.*1250A>C
ENST00000637343.1:n.2169A>C
ENST00000637429.1:c.*944A>C	ENSP00000490522.1:n.*944A>C
ENST00000637484.1:c.*694A>C	ENSP00000490837.1:n.*694A>C
ENST00000637528.1:c.669A>C	ENSP00000490801.1:p.Lys223Asn
ENST00000637609.1:n.3453A>C
ENST00000637636.1:c.726A>C	ENSP00000490112.1:p.Lys242Asn
ENST00000637790.2:c.732A>C MANE Select	ENSP00000490272.1:p.Lys244Asn
ENST00000637857.1:n.1098A>C
ENST00000637922.1:c.537A>C	ENSP00000490071.1:p.Lys179Asn
ENST00000637991.1:c.705A>C	ENSP00000489901.1:p.Lys235Asn
ENST00000638028.1:n.949A>C
ENST00000638069.1:n.1553A>C
ENST00000262097.10:c.732A>C	ENSP00000262097.6:p.Lys244Asn
ENST00000314146.10:c.714A>C	ENSP00000326970.10:p.Lys238Asn
ENST00000381733.8:c.780A>C	ENSP00000371152.4:p.Lys260Asn
ENST00000518746.1:n.549A>C
ENST00000519468.5:n.561A>C
ENST00000520781.5:c.657A>C	ENSP00000427751.1:p.Lys219Asn
ENST00000521542.1:n.445A>C
NM_001127505.1:c.714A>C	NP_001120977.1:p.Lys238Asn
NM_001127505.2:c.714A>C	NP_001120977.1:p.Lys238Asn
NM_004315.4:c.780A>C	NP_004306.3:p.Lys260Asn
NM_004315.5:c.780A>C	NP_004306.3:p.Lys260Asn
NM_177924.3:c.732A>C	NP_808592.2:p.Lys244Asn
NM_177924.4:c.732A>C	NP_808592.2:p.Lys244Asn
XM_005273504.2:c.666A>C	XP_005273561.1:p.Lys222Asn
NM_001363743.1:c.537A>C	NP_001350672.1:p.Lys179Asn
XM_005273504.3:c.666A>C	XP_005273561.1:p.Lys222Asn
NM_177924.5:c.732A>C MANE Select	NP_808592.2:p.Lys244Asn
NM_001127505.3:c.714A>C	NP_001120977.1:p.Lys238Asn
NM_001363743.2:c.537A>C	NP_001350672.1:p.Lys179Asn
NM_004315.6:c.780A>C	NP_004306.3:p.Lys260Asn