Canonical Allele Identifier: CA213788
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36221
ClinVar RCV Id: RCV000516927 RCV000991335 RCV002336092
dbSNP Id: rs193922300
MyVariant Identifiers: chr7:g.44190581G>A (hg19) chr7:g.44150982G>A (hg38)
ERepo: CA213788/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150982G>A , CM000669.2:g.44150982G>A GRCh38
NC_000007.13:g.44190581G>A , CM000669.1:g.44190581G>A GRCh37
NC_000007.12:g.44157106G>A NCBI36
NG_008847.1:g.43442C>T
NG_008847.2:g.52189C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*455C>T ENSP00000379142.4:n.*455C>T
ENST00000616242.5:c.457C>T ENSP00000482149.2:p.Pro153Ser
ENST00000682635.1:n.943C>T
ENST00000345378.7:c.460C>T ENSP00000223366.2:p.Pro154Ser
ENST00000403799.8:c.457C>T MANE Select ENSP00000384247.3:p.Pro153Ser
ENST00000671824.1:c.457C>T ENSP00000500264.1:p.Pro153Ser
ENST00000673284.1:c.457C>T ENSP00000499852.1:p.Pro153Ser
ENST00000345378.6:c.460C>T ENSP00000223366.2:p.Pro154Ser
ENST00000395796.7:c.454C>T ENSP00000379142.3:p.Pro152Ser
ENST00000403799.7:c.457C>T ENSP00000384247.3:p.Pro153Ser
ENST00000437084.1:c.406C>T ENSP00000402840.1:p.Pro136Ser
ENST00000616242.4:c.454C>T ENSP00000482149.1:p.Pro152Ser
NM_000162.3:c.457C>T NP_000153.1:p.Pro153Ser
NM_033507.1:c.460C>T NP_277042.1:p.Pro154Ser
NM_033508.1:c.454C>T NP_277043.1:p.Pro152Ser
NM_000162.4:c.457C>T NP_000153.1:p.Pro153Ser
NM_001354800.1:c.457C>T NP_001341729.1:p.Pro153Ser
NM_033507.2:c.460C>T NP_277042.1:p.Pro154Ser
NM_033508.2:c.454C>T NP_277043.1:p.Pro152Ser
NM_000162.5:c.457C>T MANE Select NP_000153.1:p.Pro153Ser
NM_033507.3:c.460C>T NP_277042.1:p.Pro154Ser
NM_033508.3:c.454C>T NP_277043.1:p.Pro152Ser
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