Canonical Allele Identifier: CA367402205
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 522504
ClinVar RCV Id: RCV000625646 RCV001860464 RCV002464028 RCV003993672
dbSNP Id: rs1554335612
MyVariant Identifiers: chr7:g.44190667T>A (hg19) chr7:g.44151068T>A (hg38)
ERepo: CA367402205/MONDO:0015967/086
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44151068T>A , CM000669.2:g.44151068T>A GRCh38
NC_000007.13:g.44190667T>A , CM000669.1:g.44190667T>A GRCh37
NC_000007.12:g.44157192T>A NCBI36
NG_008847.1:g.43356A>T
NG_008847.2:g.52103A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*369A>T ENSP00000379142.4:n.*369A>T
ENST00000616242.5:c.371A>T ENSP00000482149.2:p.Asp124Val
ENST00000682635.1:n.857A>T
ENST00000345378.7:c.374A>T ENSP00000223366.2:p.Asp125Val
ENST00000403799.8:c.371A>T MANE Select ENSP00000384247.3:p.Asp124Val
ENST00000671824.1:c.371A>T ENSP00000500264.1:p.Asp124Val
ENST00000673284.1:c.371A>T ENSP00000499852.1:p.Asp124Val
ENST00000345378.6:c.374A>T ENSP00000223366.2:p.Asp125Val
ENST00000395796.7:c.368A>T ENSP00000379142.3:p.Asp123Val
ENST00000403799.7:c.371A>T ENSP00000384247.3:p.Asp124Val
ENST00000437084.1:c.364-44A>T ENSP00000402840.1:n.364-44A>T
ENST00000616242.4:c.368A>T ENSP00000482149.1:p.Asp123Val
NM_000162.3:c.371A>T NP_000153.1:p.Asp124Val
NM_033507.1:c.374A>T NP_277042.1:p.Asp125Val
NM_033508.1:c.368A>T NP_277043.1:p.Asp123Val
NM_000162.4:c.371A>T NP_000153.1:p.Asp124Val
NM_001354800.1:c.371A>T NP_001341729.1:p.Asp124Val
NM_033507.2:c.374A>T NP_277042.1:p.Asp125Val
NM_033508.2:c.368A>T NP_277043.1:p.Asp123Val
NM_000162.5:c.371A>T MANE Select NP_000153.1:p.Asp124Val
NM_033507.3:c.374A>T NP_277042.1:p.Asp125Val
NM_033508.3:c.368A>T NP_277043.1:p.Asp123Val
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