Canonical Allele Identifier: CA382644812

Gene: ANKK1

Linked Data

• dbSNP Id: rs1240019918
• gnomAD v2: 11-113270019-C-T
• gnomAD v4: 11-113399297-C-T
• MyVariant Identifiers: chr11:g.113270019C>T (hg19) ; chr11:g.113399297C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399297C>T , CM000673.2:g.113399297C>T	GRCh38
NC_000011.9:g.113270019C>T , CM000673.1:g.113270019C>T	GRCh37
NC_000011.8:g.112775229C>T	NCBI36
NG_012976.1:g.16507C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.1328C>T MANE Select	ENSP00000306678.3:p.Thr443Ile
ENST00000303941.3:c.1328C>T	ENSP00000306678.3:p.Thr443Ile
NM_178510.1:c.1328C>T	NP_848605.1:p.Thr443Ile
XM_011542736.1:c.1361C>T	XP_011541038.1:p.Thr454Ile
XM_011542737.1:c.1331C>T	XP_011541039.1:p.Thr444Ile
XM_011542738.1:c.1139C>T	XP_011541040.1:p.Thr380Ile
XM_011542736.2:c.1361C>T	XP_011541038.1:p.Thr454Ile
XM_011542737.2:c.1331C>T	XP_011541039.1:p.Thr444Ile
XM_011542738.2:c.1139C>T	XP_011541040.1:p.Thr380Ile
XM_017017475.1:c.1358C>T	XP_016872964.1:p.Thr453Ile
NM_178510.2:c.1328C>T MANE Select	NP_848605.1:p.Thr443Ile