Canonical Allele Identifier: CA382644521

Gene: ANKK1

Linked Data

• dbSNP Id: rs373849007
• gnomAD v2: 11-113269906-C-A
• gnomAD v4: 11-113399184-C-A
• MyVariant Identifiers: chr11:g.113269906C>A (hg19) ; chr11:g.113399184C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399184C>A , CM000673.2:g.113399184C>A	GRCh38
NC_000011.9:g.113269906C>A , CM000673.1:g.113269906C>A	GRCh37
NC_000011.8:g.112775116C>A	NCBI36
NG_012976.1:g.16394C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1215C>A MANE Select	ENSP00000306678.3:p.Asp405Glu
ENST00000303941.3:c.1215C>A	ENSP00000306678.3:p.Asp405Glu
NM_178510.1:c.1215C>A	NP_848605.1:p.Asp405Glu
XM_011542736.1:c.1248C>A	XP_011541038.1:p.Asp416Glu
XM_011542737.1:c.1218C>A	XP_011541039.1:p.Asp406Glu
XM_011542738.1:c.1026C>A	XP_011541040.1:p.Asp342Glu
XM_011542736.2:c.1248C>A	XP_011541038.1:p.Asp416Glu
XM_011542737.2:c.1218C>A	XP_011541039.1:p.Asp406Glu
XM_011542738.2:c.1026C>A	XP_011541040.1:p.Asp342Glu
XM_017017475.1:c.1245C>A	XP_016872964.1:p.Asp415Glu
NM_178510.2:c.1215C>A MANE Select	NP_848605.1:p.Asp405Glu