Canonical Allele Identifier: CA6280897

Gene: ANKK1

Linked Data

• dbSNP Id: rs267602697
• ExAC: 11:113269904 G / A
• gnomAD v2: 11-113269904-G-A
• gnomAD v4: 11-113399182-G-A
• MyVariant Identifiers: chr11:g.113269904G>A (hg19) ; chr11:g.113399182G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399182G>A , CM000673.2:g.113399182G>A	GRCh38
NC_000011.9:g.113269904G>A , CM000673.1:g.113269904G>A	GRCh37
NC_000011.8:g.112775114G>A	NCBI36
NG_012976.1:g.16392G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1213G>A MANE Select	ENSP00000306678.3:p.Asp405Asn
ENST00000303941.3:c.1213G>A	ENSP00000306678.3:p.Asp405Asn
NM_178510.1:c.1213G>A	NP_848605.1:p.Asp405Asn
XM_011542736.1:c.1246G>A	XP_011541038.1:p.Asp416Asn
XM_011542737.1:c.1216G>A	XP_011541039.1:p.Asp406Asn
XM_011542738.1:c.1024G>A	XP_011541040.1:p.Asp342Asn
XM_011542736.2:c.1246G>A	XP_011541038.1:p.Asp416Asn
XM_011542737.2:c.1216G>A	XP_011541039.1:p.Asp406Asn
XM_011542738.2:c.1024G>A	XP_011541040.1:p.Asp342Asn
XM_017017475.1:c.1243G>A	XP_016872964.1:p.Asp415Asn
NM_178510.2:c.1213G>A MANE Select	NP_848605.1:p.Asp405Asn