Canonical Allele Identifier: CA367400633
Gene: GCK HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.44187361T>A (hg19) chr7:g.44147762T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147762T>A , CM000669.2:g.44147762T>A GRCh38
NC_000007.13:g.44187361T>A , CM000669.1:g.44187361T>A GRCh37
NC_000007.12:g.44153886T>A NCBI36
NG_008847.1:g.46662A>T
NG_008847.2:g.55409A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*749A>T ENSP00000379142.4:n.*749A>T
ENST00000616242.5:c.751A>T ENSP00000482149.2:p.Met251Leu
ENST00000345378.7:c.754A>T ENSP00000223366.2:p.Met252Leu
ENST00000403799.8:c.751A>T MANE Select ENSP00000384247.3:p.Met251Leu
ENST00000671824.1:c.751A>T ENSP00000500264.1:p.Met251Leu
ENST00000673284.1:c.751A>T ENSP00000499852.1:p.Met251Leu
ENST00000345378.6:c.754A>T ENSP00000223366.2:p.Met252Leu
ENST00000395796.7:c.748A>T ENSP00000379142.3:p.Met250Leu
ENST00000403799.7:c.751A>T ENSP00000384247.3:p.Met251Leu
ENST00000437084.1:c.700A>T ENSP00000402840.1:p.Met234Leu
ENST00000616242.4:c.748A>T ENSP00000482149.1:p.Met250Leu
NM_000162.3:c.751A>T NP_000153.1:p.Met251Leu
NM_033507.1:c.754A>T NP_277042.1:p.Met252Leu
NM_033508.1:c.748A>T NP_277043.1:p.Met250Leu
XR_927223.1:n.82+14T>A
NM_000162.4:c.751A>T NP_000153.1:p.Met251Leu
NM_001354800.1:c.751A>T NP_001341729.1:p.Met251Leu
NM_033507.2:c.754A>T NP_277042.1:p.Met252Leu
NM_033508.2:c.748A>T NP_277043.1:p.Met250Leu
XR_927223.2:n.82+14T>A
NM_000162.5:c.751A>T MANE Select NP_000153.1:p.Met251Leu
NM_033507.3:c.754A>T NP_277042.1:p.Met252Leu
NM_033508.3:c.748A>T NP_277043.1:p.Met250Leu
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