Canonical Allele Identifier: CA6281074

Gene: ANKK1

Linked Data

• dbSNP Id: rs768579058
• ExAC: 11:113270750 G / A
• gnomAD v2: 11-113270750-G-A
• gnomAD v3: 11-113400028-G-A
• gnomAD v4: 11-113400028-G-A
• COSMIC: COSM3443517
• MyVariant Identifiers: chr11:g.113270750G>A (hg19) ; chr11:g.113400028G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113400028G>A , CM000673.2:g.113400028G>A	GRCh38
NC_000011.9:g.113270750G>A , CM000673.1:g.113270750G>A	GRCh37
NC_000011.8:g.112775960G>A	NCBI36
NG_012976.1:g.17238G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.2059G>A MANE Select	ENSP00000306678.3:p.Ala687Thr
ENST00000303941.3:c.2059G>A	ENSP00000306678.3:p.Ala687Thr
NM_178510.1:c.2059G>A	NP_848605.1:p.Ala687Thr
XM_011542736.1:c.2092G>A	XP_011541038.1:p.Ala698Thr
XM_011542737.1:c.2062G>A	XP_011541039.1:p.Ala688Thr
XM_011542738.1:c.1870G>A	XP_011541040.1:p.Ala624Thr
XM_011542736.2:c.2092G>A	XP_011541038.1:p.Ala698Thr
XM_011542737.2:c.2062G>A	XP_011541039.1:p.Ala688Thr
XM_011542738.2:c.1870G>A	XP_011541040.1:p.Ala624Thr
XM_017017475.1:c.2089G>A	XP_016872964.1:p.Ala697Thr
NM_178510.2:c.2059G>A MANE Select	NP_848605.1:p.Ala687Thr