Canonical Allele Identifier: CA213810
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36233
dbSNP Id: rs193922311
gnomAD v2: 7-44189433-A-G
gnomAD v4: 7-44149834-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149834A>G , CM000669.2:g.44149834A>G GRCh38
NC_000007.13:g.44189433A>G , CM000669.1:g.44189433A>G GRCh37
NC_000007.12:g.44155958A>G NCBI36
NG_008847.1:g.44590T>C
NG_008847.2:g.53337T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*603T>C ENSP00000379142.4:n.*603T>C
ENST00000616242.5:c.605T>C ENSP00000482149.2:p.Met202Thr
ENST00000682635.1:n.1091T>C
ENST00000345378.7:c.608T>C ENSP00000223366.2:p.Met203Thr
ENST00000403799.8:c.605T>C MANE Select ENSP00000384247.3:p.Met202Thr
ENST00000671824.1:c.605T>C ENSP00000500264.1:p.Met202Thr
ENST00000673284.1:c.605T>C ENSP00000499852.1:p.Met202Thr
ENST00000345378.6:c.608T>C ENSP00000223366.2:p.Met203Thr
ENST00000395796.7:c.602T>C ENSP00000379142.3:p.Met201Thr
ENST00000403799.7:c.605T>C ENSP00000384247.3:p.Met202Thr
ENST00000437084.1:c.554T>C ENSP00000402840.1:p.Met185Thr
ENST00000616242.4:c.602T>C ENSP00000482149.1:p.Met201Thr
NM_000162.3:c.605T>C NP_000153.1:p.Met202Thr
NM_033507.1:c.608T>C NP_277042.1:p.Met203Thr
NM_033508.1:c.602T>C NP_277043.1:p.Met201Thr
NM_000162.4:c.605T>C NP_000153.1:p.Met202Thr
NM_001354800.1:c.605T>C NP_001341729.1:p.Met202Thr
NM_033507.2:c.608T>C NP_277042.1:p.Met203Thr
NM_033508.2:c.602T>C NP_277043.1:p.Met201Thr
NM_000162.5:c.605T>C MANE Select NP_000153.1:p.Met202Thr
NM_033507.3:c.608T>C NP_277042.1:p.Met203Thr
NM_033508.3:c.602T>C NP_277043.1:p.Met201Thr