Canonical Allele Identifier: CA382644878

Gene: ANKK1

Linked Data

• dbSNP Id: rs1324937616
• gnomAD v2: 11-113270037-A-G
• gnomAD v4: 11-113399315-A-G
• MyVariant Identifiers: chr11:g.113270037A>G (hg19) ; chr11:g.113399315A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399315A>G , CM000673.2:g.113399315A>G	GRCh38
NC_000011.9:g.113270037A>G , CM000673.1:g.113270037A>G	GRCh37
NC_000011.8:g.112775247A>G	NCBI36
NG_012976.1:g.16525A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.1346A>G MANE Select	ENSP00000306678.3:p.Asp449Gly
ENST00000303941.3:c.1346A>G	ENSP00000306678.3:p.Asp449Gly
NM_178510.1:c.1346A>G	NP_848605.1:p.Asp449Gly
XM_011542736.1:c.1379A>G	XP_011541038.1:p.Asp460Gly
XM_011542737.1:c.1349A>G	XP_011541039.1:p.Asp450Gly
XM_011542738.1:c.1157A>G	XP_011541040.1:p.Asp386Gly
XM_011542736.2:c.1379A>G	XP_011541038.1:p.Asp460Gly
XM_011542737.2:c.1349A>G	XP_011541039.1:p.Asp450Gly
XM_011542738.2:c.1157A>G	XP_011541040.1:p.Asp386Gly
XM_017017475.1:c.1376A>G	XP_016872964.1:p.Asp459Gly
NM_178510.2:c.1346A>G MANE Select	NP_848605.1:p.Asp449Gly