Canonical Allele Identifier: CA382645167

Gene: ANKK1

Linked Data

• MyVariant Identifiers: chr11:g.113270133T>A (hg19) ; chr11:g.113399411T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399411T>A , CM000673.2:g.113399411T>A	GRCh38
NC_000011.9:g.113270133T>A , CM000673.1:g.113270133T>A	GRCh37
NC_000011.8:g.112775343T>A	NCBI36
NG_012976.1:g.16621T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1442T>A MANE Select	ENSP00000306678.3:p.Val481Asp
ENST00000303941.3:c.1442T>A	ENSP00000306678.3:p.Val481Asp
NM_178510.1:c.1442T>A	NP_848605.1:p.Val481Asp
XM_011542736.1:c.1475T>A	XP_011541038.1:p.Val492Asp
XM_011542737.1:c.1445T>A	XP_011541039.1:p.Val482Asp
XM_011542738.1:c.1253T>A	XP_011541040.1:p.Val418Asp
XM_011542736.2:c.1475T>A	XP_011541038.1:p.Val492Asp
XM_011542737.2:c.1445T>A	XP_011541039.1:p.Val482Asp
XM_011542738.2:c.1253T>A	XP_011541040.1:p.Val418Asp
XM_017017475.1:c.1472T>A	XP_016872964.1:p.Val491Asp
NM_178510.2:c.1442T>A MANE Select	NP_848605.1:p.Val481Asp