Canonical Allele Identifier: CA6281048

Gene: ANKK1

Linked Data

• dbSNP Id: rs755322242
• ExAC: 11:113270634 G / A
• MyVariant Identifiers: chr11:g.113270634G>A (hg19) ; chr11:g.113399912G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399912G>A , CM000673.2:g.113399912G>A	GRCh38
NC_000011.9:g.113270634G>A , CM000673.1:g.113270634G>A	GRCh37
NC_000011.8:g.112775844G>A	NCBI36
NG_012976.1:g.17122G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1943G>A MANE Select	ENSP00000306678.3:p.Cys648Tyr
ENST00000303941.3:c.1943G>A	ENSP00000306678.3:p.Cys648Tyr
NM_178510.1:c.1943G>A	NP_848605.1:p.Cys648Tyr
XM_011542736.1:c.1976G>A	XP_011541038.1:p.Cys659Tyr
XM_011542737.1:c.1946G>A	XP_011541039.1:p.Cys649Tyr
XM_011542738.1:c.1754G>A	XP_011541040.1:p.Cys585Tyr
XM_011542736.2:c.1976G>A	XP_011541038.1:p.Cys659Tyr
XM_011542737.2:c.1946G>A	XP_011541039.1:p.Cys649Tyr
XM_011542738.2:c.1754G>A	XP_011541040.1:p.Cys585Tyr
XM_017017475.1:c.1973G>A	XP_016872964.1:p.Cys658Tyr
NM_178510.2:c.1943G>A MANE Select	NP_848605.1:p.Cys648Tyr