Canonical Allele Identifier: CA6281077

Gene: ANKK1

Linked Data

• dbSNP Id: rs377621768
• ExAC: 11:113270754 G / A
• gnomAD v2: 11-113270754-G-A
• gnomAD v3: 11-113400032-G-A
• gnomAD v4: 11-113400032-G-A
• MyVariant Identifiers: chr11:g.113270754G>A (hg19) ; chr11:g.113400032G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113400032G>A , CM000673.2:g.113400032G>A	GRCh38
NC_000011.9:g.113270754G>A , CM000673.1:g.113270754G>A	GRCh37
NC_000011.8:g.112775964G>A	NCBI36
NG_012976.1:g.17242G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.2063G>A MANE Select	ENSP00000306678.3:p.Arg688His
ENST00000303941.3:c.2063G>A	ENSP00000306678.3:p.Arg688His
NM_178510.1:c.2063G>A	NP_848605.1:p.Arg688His
XM_011542736.1:c.2096G>A	XP_011541038.1:p.Arg699His
XM_011542737.1:c.2066G>A	XP_011541039.1:p.Arg689His
XM_011542738.1:c.1874G>A	XP_011541040.1:p.Arg625His
XM_011542736.2:c.2096G>A	XP_011541038.1:p.Arg699His
XM_011542737.2:c.2066G>A	XP_011541039.1:p.Arg689His
XM_011542738.2:c.1874G>A	XP_011541040.1:p.Arg625His
XM_017017475.1:c.2093G>A	XP_016872964.1:p.Arg698His
NM_178510.2:c.2063G>A MANE Select	NP_848605.1:p.Arg688His