Canonical Allele Identifier: CA408647802

Gene: ASIP AHCY

Linked Data

• dbSNP Id: rs1209709140
• gnomAD v2: 20-32856801-A-C
• gnomAD v4: 20-34268995-A-C
• MyVariant Identifiers: chr20:g.32856801A>C (hg19) ; chr20:g.34268995A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34268995A>C , CM000682.2:g.34268995A>C	GRCh38
NC_000020.10:g.32856801A>C , CM000682.1:g.32856801A>C	GRCh37
NC_000020.9:g.32320462A>C	NCBI36
NG_011439.1:g.13631A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374954.4:c.227A>C (ASIP) MANE Select	ENSP00000364092.3:p.Glu76Ala
ENST00000374954.3:c.227A>C (ASIP)	ENSP00000364092.3:p.Glu76Ala
ENST00000568305.5:c.227A>C (ASIP)	ENSP00000454804.1:p.Glu76Ala
NM_001672.2:c.227A>C (ASIP)	NP_001663.2:p.Glu76Ala
XM_005260412.2:c.239A>C (ASIP)	XP_005260469.1:p.Glu80Ala
XM_011528657.1:c.*7+12032T>G (AHCY)	XP_011526959.1:n.*7+12032T>G
XM_011528820.1:c.227A>C (ASIP)	XP_011527122.1:p.Glu76Ala
XM_011528821.1:c.227A>C (ASIP)	XP_011527123.1:p.Glu76Ala
XM_011528822.1:c.227A>C (ASIP)	XP_011527124.1:p.Glu76Ala
XM_011528823.1:c.227A>C (ASIP)	XP_011527125.1:p.Glu76Ala
XM_005260412.3:c.239A>C (ASIP)	XP_005260469.1:p.Glu80Ala
XM_011528657.2:c.*7+12032T>G (AHCY)	XP_011526959.2:n.*7+12032T>G
XM_011528820.2:c.227A>C (ASIP)	XP_011527122.1:p.Glu76Ala
NM_001385218.1:c.227A>C (ASIP)	NP_001372147.1:p.Glu76Ala
NM_001672.3:c.227A>C (ASIP) MANE Select	NP_001663.2:p.Glu76Ala