Canonical Allele Identifier: CA382644815

Gene: ANKK1

Linked Data

• gnomAD v4: 11-113399299-G-A
• MyVariant Identifiers: chr11:g.113270021G>A (hg19) ; chr11:g.113399299G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399299G>A , CM000673.2:g.113399299G>A	GRCh38
NC_000011.9:g.113270021G>A , CM000673.1:g.113270021G>A	GRCh37
NC_000011.8:g.112775231G>A	NCBI36
NG_012976.1:g.16509G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.1330G>A MANE Select	ENSP00000306678.3:p.Ala444Thr
ENST00000303941.3:c.1330G>A	ENSP00000306678.3:p.Ala444Thr
NM_178510.1:c.1330G>A	NP_848605.1:p.Ala444Thr
XM_011542736.1:c.1363G>A	XP_011541038.1:p.Ala455Thr
XM_011542737.1:c.1333G>A	XP_011541039.1:p.Ala445Thr
XM_011542738.1:c.1141G>A	XP_011541040.1:p.Ala381Thr
XM_011542736.2:c.1363G>A	XP_011541038.1:p.Ala455Thr
XM_011542737.2:c.1333G>A	XP_011541039.1:p.Ala445Thr
XM_011542738.2:c.1141G>A	XP_011541040.1:p.Ala381Thr
XM_017017475.1:c.1360G>A	XP_016872964.1:p.Ala454Thr
NM_178510.2:c.1330G>A MANE Select	NP_848605.1:p.Ala444Thr