Canonical Allele Identifier: CA6281072

Gene: ANKK1

Linked Data

• dbSNP Id: rs779573357
• ExAC: 11:113270747 C / G
• gnomAD v2: 11-113270747-C-G
• MyVariant Identifiers: chr11:g.113270747C>G (hg19) ; chr11:g.113400025C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113400025C>G , CM000673.2:g.113400025C>G	GRCh38
NC_000011.9:g.113270747C>G , CM000673.1:g.113270747C>G	GRCh37
NC_000011.8:g.112775957C>G	NCBI36
NG_012976.1:g.17235C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.2056C>G MANE Select	ENSP00000306678.3:p.His686Asp
ENST00000303941.3:c.2056C>G	ENSP00000306678.3:p.His686Asp
NM_178510.1:c.2056C>G	NP_848605.1:p.His686Asp
XM_011542736.1:c.2089C>G	XP_011541038.1:p.His697Asp
XM_011542737.1:c.2059C>G	XP_011541039.1:p.His687Asp
XM_011542738.1:c.1867C>G	XP_011541040.1:p.His623Asp
XM_011542736.2:c.2089C>G	XP_011541038.1:p.His697Asp
XM_011542737.2:c.2059C>G	XP_011541039.1:p.His687Asp
XM_011542738.2:c.1867C>G	XP_011541040.1:p.His623Asp
XM_017017475.1:c.2086C>G	XP_016872964.1:p.His696Asp
NM_178510.2:c.2056C>G MANE Select	NP_848605.1:p.His686Asp