Canonical Allele Identifier: CA367398277
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145513-A-G
MyVariant Identifiers: chr7:g.44185112A>G (hg19) chr7:g.44145513A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145513A>G , CM000669.2:g.44145513A>G GRCh38
NC_000007.13:g.44185112A>G , CM000669.1:g.44185112A>G GRCh37
NC_000007.12:g.44151637A>G NCBI36
NG_008847.1:g.48911T>C
NG_008847.2:g.57658T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1235T>C ENSP00000379142.4:n.*1235T>C
ENST00000616242.5:c.*357T>C ENSP00000482149.2:n.*357T>C
ENST00000683378.1:n.463T>C
ENST00000336642.9:c.271T>C ENSP00000338009.5:p.Tyr91His
ENST00000345378.7:c.1240T>C ENSP00000223366.2:p.Tyr414His
ENST00000403799.8:c.1237T>C MANE Select ENSP00000384247.3:p.Tyr413His
ENST00000671824.1:c.1300T>C ENSP00000500264.1:p.Tyr434His
ENST00000672743.1:n.249T>C
ENST00000673284.1:c.1237T>C ENSP00000499852.1:p.Tyr413His
ENST00000336642.8:c.289T>C ENSP00000338009.4:p.Tyr97His
ENST00000345378.6:c.1240T>C ENSP00000223366.2:p.Tyr414His
ENST00000395796.7:c.1234T>C ENSP00000379142.3:p.Tyr412His
ENST00000403799.7:c.1237T>C ENSP00000384247.3:p.Tyr413His
ENST00000437084.1:c.1186T>C ENSP00000402840.1:p.Tyr396His
ENST00000459642.1:n.617T>C
ENST00000616242.4:c.1234T>C ENSP00000482149.1:p.Tyr412His
NM_000162.3:c.1237T>C NP_000153.1:p.Tyr413His
NM_033507.1:c.1240T>C NP_277042.1:p.Tyr414His
NM_033508.1:c.1234T>C NP_277043.1:p.Tyr412His
NM_000162.4:c.1237T>C NP_000153.1:p.Tyr413His
NM_001354800.1:c.1237T>C NP_001341729.1:p.Tyr413His
NM_001354801.1:c.226T>C NP_001341730.1:p.Tyr76His
NM_001354802.1:c.97T>C NP_001341731.1:p.Tyr33His
NM_001354803.1:c.271T>C NP_001341732.1:p.Tyr91His
NM_033507.2:c.1240T>C NP_277042.1:p.Tyr414His
NM_033508.2:c.1234T>C NP_277043.1:p.Tyr412His
XM_024446707.1:c.97T>C XP_024302475.1:p.Tyr33His
NM_000162.5:c.1237T>C MANE Select NP_000153.1:p.Tyr413His
NM_033507.3:c.1240T>C NP_277042.1:p.Tyr414His
NM_033508.3:c.1234T>C NP_277043.1:p.Tyr412His
NM_001354803.2:c.271T>C NP_001341732.1:p.Tyr91His
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