Canonical Allele Identifier: CA1240316219
Gene: GCKR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27520287A>T , CM000664.2:g.27520287A>T GRCh38
NC_000002.11:g.27743154A>T , CM000664.1:g.27743154A>T GRCh37
NC_000002.10:g.27596658A>T NCBI36
NG_028024.1:g.28449A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264717.7:c.1572+1350A>T MANE Select ENSP00000264717.2:n.1572+1350A>T
ENST00000264717.6:c.1572+1350A>T ENSP00000264717.2:n.1572+1350A>T
NM_001486.3:c.1572+1350A>T NP_001477.2:n.1572+1350A>T
XM_011532761.1:c.1419+1350A>T XP_011531063.1:n.1419+1350A>T
XM_011532762.1:c.1002+1350A>T XP_011531064.1:n.1002+1350A>T
XM_017003796.1:c.1002+1350A>T XP_016859285.1:n.1002+1350A>T
XM_017003797.1:c.1002+1350A>T XP_016859286.1:n.1002+1350A>T
NM_001486.4:c.1572+1350A>T MANE Select NP_001477.2:n.1572+1350A>T