Canonical Allele Identifier: CA382644382

Gene: ANKK1

Linked Data

• dbSNP Id: rs1184934502
• gnomAD v2: 11-113269839-C-T
• gnomAD v4: 11-113399117-C-T
• MyVariant Identifiers: chr11:g.113269839C>T (hg19) ; chr11:g.113399117C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399117C>T , CM000673.2:g.113399117C>T	GRCh38
NC_000011.9:g.113269839C>T , CM000673.1:g.113269839C>T	GRCh37
NC_000011.8:g.112775049C>T	NCBI36
NG_012976.1:g.16327C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1148C>T MANE Select	ENSP00000306678.3:p.Ala383Val
ENST00000303941.3:c.1148C>T	ENSP00000306678.3:p.Ala383Val
NM_178510.1:c.1148C>T	NP_848605.1:p.Ala383Val
XM_011542736.1:c.1181C>T	XP_011541038.1:p.Ala394Val
XM_011542737.1:c.1151C>T	XP_011541039.1:p.Ala384Val
XM_011542738.1:c.959C>T	XP_011541040.1:p.Ala320Val
XM_011542736.2:c.1181C>T	XP_011541038.1:p.Ala394Val
XM_011542737.2:c.1151C>T	XP_011541039.1:p.Ala384Val
XM_011542738.2:c.959C>T	XP_011541040.1:p.Ala320Val
XM_017017475.1:c.1178C>T	XP_016872964.1:p.Ala393Val
NM_178510.2:c.1148C>T MANE Select	NP_848605.1:p.Ala383Val