Canonical Allele Identifier: CA382645120

Gene: ANKK1

Linked Data

• dbSNP Id: rs1237669760
• gnomAD v3: 11-113399388-T-A
• gnomAD v4: 11-113399388-T-A
• MyVariant Identifiers: chr11:g.113270110T>A (hg19) ; chr11:g.113399388T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399388T>A , CM000673.2:g.113399388T>A	GRCh38
NC_000011.9:g.113270110T>A , CM000673.1:g.113270110T>A	GRCh37
NC_000011.8:g.112775320T>A	NCBI36
NG_012976.1:g.16598T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1419T>A MANE Select	ENSP00000306678.3:p.Phe473Leu
ENST00000303941.3:c.1419T>A	ENSP00000306678.3:p.Phe473Leu
NM_178510.1:c.1419T>A	NP_848605.1:p.Phe473Leu
XM_011542736.1:c.1452T>A	XP_011541038.1:p.Phe484Leu
XM_011542737.1:c.1422T>A	XP_011541039.1:p.Phe474Leu
XM_011542738.1:c.1230T>A	XP_011541040.1:p.Phe410Leu
XM_011542736.2:c.1452T>A	XP_011541038.1:p.Phe484Leu
XM_011542737.2:c.1422T>A	XP_011541039.1:p.Phe474Leu
XM_011542738.2:c.1230T>A	XP_011541040.1:p.Phe410Leu
XM_017017475.1:c.1449T>A	XP_016872964.1:p.Phe483Leu
NM_178510.2:c.1419T>A MANE Select	NP_848605.1:p.Phe473Leu