Canonical Allele Identifier: CA213828
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36244
dbSNP Id: rs193922319

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149762A>G , CM000669.2:g.44149762A>G GRCh38
NC_000007.13:g.44189361A>G , CM000669.1:g.44189361A>G GRCh37
NC_000007.12:g.44155886A>G NCBI36
NG_008847.1:g.44662T>C
NG_008847.2:g.53409T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*675T>C ENSP00000379142.4:n.*675T>C
ENST00000616242.5:c.677T>C ENSP00000482149.2:p.Val226Ala
ENST00000682635.1:n.1163T>C
ENST00000345378.7:c.680T>C ENSP00000223366.2:p.Val227Ala
ENST00000403799.8:c.677T>C MANE Select ENSP00000384247.3:p.Val226Ala
ENST00000671824.1:c.677T>C ENSP00000500264.1:p.Val226Ala
ENST00000673284.1:c.677T>C ENSP00000499852.1:p.Val226Ala
ENST00000345378.6:c.680T>C ENSP00000223366.2:p.Val227Ala
ENST00000395796.7:c.674T>C ENSP00000379142.3:p.Val225Ala
ENST00000403799.7:c.677T>C ENSP00000384247.3:p.Val226Ala
ENST00000437084.1:c.626T>C ENSP00000402840.1:p.Val209Ala
ENST00000616242.4:c.674T>C ENSP00000482149.1:p.Val225Ala
NM_000162.3:c.677T>C NP_000153.1:p.Val226Ala
NM_033507.1:c.680T>C NP_277042.1:p.Val227Ala
NM_033508.1:c.674T>C NP_277043.1:p.Val225Ala
XR_927223.1:n.277A>G
NM_000162.4:c.677T>C NP_000153.1:p.Val226Ala
NM_001354800.1:c.677T>C NP_001341729.1:p.Val226Ala
NM_033507.2:c.680T>C NP_277042.1:p.Val227Ala
NM_033508.2:c.674T>C NP_277043.1:p.Val225Ala
XR_927223.2:n.277A>G
NM_000162.5:c.677T>C MANE Select NP_000153.1:p.Val226Ala
NM_033507.3:c.680T>C NP_277042.1:p.Val227Ala
NM_033508.3:c.674T>C NP_277043.1:p.Val225Ala