Canonical Allele Identifier: CA367400499
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs2096275474
MyVariant Identifiers: chr7:g.44187297T>G (hg19) chr7:g.44147698T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147698T>G , CM000669.2:g.44147698T>G GRCh38
NC_000007.13:g.44187297T>G , CM000669.1:g.44187297T>G GRCh37
NC_000007.12:g.44153822T>G NCBI36
NG_008847.1:g.46726A>C
NG_008847.2:g.55473A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*813A>C ENSP00000379142.4:n.*813A>C
ENST00000616242.5:c.815A>C ENSP00000482149.2:p.Glu272Ala
ENST00000345378.7:c.818A>C ENSP00000223366.2:p.Glu273Ala
ENST00000403799.8:c.815A>C MANE Select ENSP00000384247.3:p.Glu272Ala
ENST00000671824.1:c.815A>C ENSP00000500264.1:p.Glu272Ala
ENST00000673284.1:c.815A>C ENSP00000499852.1:p.Glu272Ala
ENST00000345378.6:c.818A>C ENSP00000223366.2:p.Glu273Ala
ENST00000395796.7:c.812A>C ENSP00000379142.3:p.Glu271Ala
ENST00000403799.7:c.815A>C ENSP00000384247.3:p.Glu272Ala
ENST00000437084.1:c.764A>C ENSP00000402840.1:p.Glu255Ala
ENST00000616242.4:c.812A>C ENSP00000482149.1:p.Glu271Ala
NM_000162.3:c.815A>C NP_000153.1:p.Glu272Ala
NM_033507.1:c.818A>C NP_277042.1:p.Glu273Ala
NM_033508.1:c.812A>C NP_277043.1:p.Glu271Ala
XR_927223.1:n.32T>G
NM_000162.4:c.815A>C NP_000153.1:p.Glu272Ala
NM_001354800.1:c.815A>C NP_001341729.1:p.Glu272Ala
NM_033507.2:c.818A>C NP_277042.1:p.Glu273Ala
NM_033508.2:c.812A>C NP_277043.1:p.Glu271Ala
XR_927223.2:n.32T>G
NM_000162.5:c.815A>C MANE Select NP_000153.1:p.Glu272Ala
NM_033507.3:c.818A>C NP_277042.1:p.Glu273Ala
NM_033508.3:c.812A>C NP_277043.1:p.Glu271Ala
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