Canonical Allele Identifier: CA382644870

Gene: ANKK1

Linked Data

• dbSNP Id: rs1317840722
• gnomAD v2: 11-113270036-G-A
• MyVariant Identifiers: chr11:g.113270036G>A (hg19) ; chr11:g.113399314G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399314G>A , CM000673.2:g.113399314G>A	GRCh38
NC_000011.9:g.113270036G>A , CM000673.1:g.113270036G>A	GRCh37
NC_000011.8:g.112775246G>A	NCBI36
NG_012976.1:g.16524G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.1345G>A MANE Select	ENSP00000306678.3:p.Asp449Asn
ENST00000303941.3:c.1345G>A	ENSP00000306678.3:p.Asp449Asn
NM_178510.1:c.1345G>A	NP_848605.1:p.Asp449Asn
XM_011542736.1:c.1378G>A	XP_011541038.1:p.Asp460Asn
XM_011542737.1:c.1348G>A	XP_011541039.1:p.Asp450Asn
XM_011542738.1:c.1156G>A	XP_011541040.1:p.Asp386Asn
XM_011542736.2:c.1378G>A	XP_011541038.1:p.Asp460Asn
XM_011542737.2:c.1348G>A	XP_011541039.1:p.Asp450Asn
XM_011542738.2:c.1156G>A	XP_011541040.1:p.Asp386Asn
XM_017017475.1:c.1375G>A	XP_016872964.1:p.Asp459Asn
NM_178510.2:c.1345G>A MANE Select	NP_848605.1:p.Asp449Asn