Canonical Allele Identifier: CA1028691714
Gene: GCKR HGNC NCBI

Linked Data

gnomAD v3: 2-27519736-T-A
gnomAD v4: 2-27519736-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27519736T>A , CM000664.2:g.27519736T>A GRCh38
NC_000002.11:g.27742603T>A , CM000664.1:g.27742603T>A GRCh37
NC_000002.10:g.27596107T>A NCBI36
NG_028024.1:g.27898T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264717.7:c.1572+799T>A MANE Select ENSP00000264717.2:n.1572+799T>A
ENST00000264717.6:c.1572+799T>A ENSP00000264717.2:n.1572+799T>A
NM_001486.3:c.1572+799T>A NP_001477.2:n.1572+799T>A
XM_011532761.1:c.1419+799T>A XP_011531063.1:n.1419+799T>A
XM_011532762.1:c.1002+799T>A XP_011531064.1:n.1002+799T>A
XM_017003796.1:c.1002+799T>A XP_016859285.1:n.1002+799T>A
XM_017003797.1:c.1002+799T>A XP_016859286.1:n.1002+799T>A
NM_001486.4:c.1572+799T>A MANE Select NP_001477.2:n.1572+799T>A