Canonical Allele Identifier: CA382644936

Gene: ANKK1

Linked Data

• dbSNP Id: rs1281652523
• gnomAD v2: 11-113270049-G-A
• gnomAD v3: 11-113399327-G-A
• gnomAD v4: 11-113399327-G-A
• MyVariant Identifiers: chr11:g.113270049G>A (hg19) ; chr11:g.113399327G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399327G>A , CM000673.2:g.113399327G>A	GRCh38
NC_000011.9:g.113270049G>A , CM000673.1:g.113270049G>A	GRCh37
NC_000011.8:g.112775259G>A	NCBI36
NG_012976.1:g.16537G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1358G>A MANE Select	ENSP00000306678.3:p.Cys453Tyr
ENST00000303941.3:c.1358G>A	ENSP00000306678.3:p.Cys453Tyr
NM_178510.1:c.1358G>A	NP_848605.1:p.Cys453Tyr
XM_011542736.1:c.1391G>A	XP_011541038.1:p.Cys464Tyr
XM_011542737.1:c.1361G>A	XP_011541039.1:p.Cys454Tyr
XM_011542738.1:c.1169G>A	XP_011541040.1:p.Cys390Tyr
XM_011542736.2:c.1391G>A	XP_011541038.1:p.Cys464Tyr
XM_011542737.2:c.1361G>A	XP_011541039.1:p.Cys454Tyr
XM_011542738.2:c.1169G>A	XP_011541040.1:p.Cys390Tyr
XM_017017475.1:c.1388G>A	XP_016872964.1:p.Cys463Tyr
NM_178510.2:c.1358G>A MANE Select	NP_848605.1:p.Cys453Tyr