Canonical Allele Identifier: CA382644836
Gene: ANKK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113399305C>A , CM000673.2:g.113399305C>A GRCh38
NC_000011.9:g.113270027C>A , CM000673.1:g.113270027C>A GRCh37
NC_000011.8:g.112775237C>A NCBI36
NG_012976.1:g.16515C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000303941.4:c.1336C>A MANE Select ENSP00000306678.3:p.Leu446Met
ENST00000303941.3:c.1336C>A ENSP00000306678.3:p.Leu446Met
NM_178510.1:c.1336C>A NP_848605.1:p.Leu446Met
XM_011542736.1:c.1369C>A XP_011541038.1:p.Leu457Met
XM_011542737.1:c.1339C>A XP_011541039.1:p.Leu447Met
XM_011542738.1:c.1147C>A XP_011541040.1:p.Leu383Met
XM_011542736.2:c.1369C>A XP_011541038.1:p.Leu457Met
XM_011542737.2:c.1339C>A XP_011541039.1:p.Leu447Met
XM_011542738.2:c.1147C>A XP_011541040.1:p.Leu383Met
XM_017017475.1:c.1366C>A XP_016872964.1:p.Leu456Met
NM_178510.2:c.1336C>A MANE Select NP_848605.1:p.Leu446Met