Canonical Allele Identifier: CA1028691725
Gene: GCKR HGNC NCBI

Linked Data

dbSNP Id: rs1670107436
gnomAD v3: 2-27519789-A-G
gnomAD v4: 2-27519789-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27519789A>G , CM000664.2:g.27519789A>G GRCh38
NC_000002.11:g.27742656A>G , CM000664.1:g.27742656A>G GRCh37
NC_000002.10:g.27596160A>G NCBI36
NG_028024.1:g.27951A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264717.7:c.1572+852A>G MANE Select ENSP00000264717.2:n.1572+852A>G
ENST00000264717.6:c.1572+852A>G ENSP00000264717.2:n.1572+852A>G
NM_001486.3:c.1572+852A>G NP_001477.2:n.1572+852A>G
XM_011532761.1:c.1419+852A>G XP_011531063.1:n.1419+852A>G
XM_011532762.1:c.1002+852A>G XP_011531064.1:n.1002+852A>G
XM_017003796.1:c.1002+852A>G XP_016859285.1:n.1002+852A>G
XM_017003797.1:c.1002+852A>G XP_016859286.1:n.1002+852A>G
NM_001486.4:c.1572+852A>G MANE Select NP_001477.2:n.1572+852A>G