Canonical Allele Identifier: CA11061255
Gene: GCKR HGNC NCBI

Linked Data

dbSNP Id: rs780094
gnomAD v2: 2-27741237-T-C
gnomAD v3: 2-27518370-T-C
gnomAD v4: 2-27518370-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27518370T>C , CM000664.2:g.27518370T>C GRCh38
NC_000002.11:g.27741237T>C , CM000664.1:g.27741237T>C GRCh37
NC_000002.10:g.27594741T>C NCBI36
NG_028024.1:g.26532T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264717.7:c.1423-418T>C MANE Select ENSP00000264717.2:n.1423-418T>C
ENST00000264717.6:c.1423-418T>C ENSP00000264717.2:n.1423-418T>C
NM_001486.3:c.1423-418T>C NP_001477.2:n.1423-418T>C
XM_011532761.1:c.1270-418T>C XP_011531063.1:n.1270-418T>C
XM_011532762.1:c.853-418T>C XP_011531064.1:n.853-418T>C
XM_017003796.1:c.853-418T>C XP_016859285.1:n.853-418T>C
XM_017003797.1:c.853-418T>C XP_016859286.1:n.853-418T>C
NM_001486.4:c.1423-418T>C MANE Select NP_001477.2:n.1423-418T>C