Canonical Allele Identifier: CA382646725

Gene: ANKK1

Linked Data

• MyVariant Identifiers: chr11:g.113270635T>A (hg19) ; chr11:g.113399913T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399913T>A , CM000673.2:g.113399913T>A	GRCh38
NC_000011.9:g.113270635T>A , CM000673.1:g.113270635T>A	GRCh37
NC_000011.8:g.112775845T>A	NCBI36
NG_012976.1:g.17123T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.1944T>A MANE Select	ENSP00000306678.3:p.Cys648Ter
ENST00000303941.3:c.1944T>A	ENSP00000306678.3:p.Cys648Ter
NM_178510.1:c.1944T>A	NP_848605.1:p.Cys648Ter
XM_011542736.1:c.1977T>A	XP_011541038.1:p.Cys659Ter
XM_011542737.1:c.1947T>A	XP_011541039.1:p.Cys649Ter
XM_011542738.1:c.1755T>A	XP_011541040.1:p.Cys585Ter
XM_011542736.2:c.1977T>A	XP_011541038.1:p.Cys659Ter
XM_011542737.2:c.1947T>A	XP_011541039.1:p.Cys649Ter
XM_011542738.2:c.1755T>A	XP_011541040.1:p.Cys585Ter
XM_017017475.1:c.1974T>A	XP_016872964.1:p.Cys658Ter
NM_178510.2:c.1944T>A MANE Select	NP_848605.1:p.Cys648Ter