Canonical Allele Identifier: CA367401419

Gene: GCK

Linked Data

• ClinVar Variation Id: 3026940
• ClinVar RCV Id: RCV003887333
• MyVariant Identifiers: chr7:g.44189445T>G (hg19) ; chr7:g.44149846T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149846T>G , CM000669.2:g.44149846T>G	GRCh38
NC_000007.13:g.44189445T>G , CM000669.1:g.44189445T>G	GRCh37
NC_000007.12:g.44155970T>G	NCBI36
NG_008847.1:g.44578A>C
NG_008847.2:g.53325A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*591A>C	ENSP00000379142.4:n.*591A>C
ENST00000616242.5:c.593A>C	ENSP00000482149.2:p.Asp198Ala
ENST00000682635.1:n.1079A>C
ENST00000345378.7:c.596A>C	ENSP00000223366.2:p.Asp199Ala
ENST00000403799.8:c.593A>C MANE Select	ENSP00000384247.3:p.Asp198Ala
ENST00000671824.1:c.593A>C	ENSP00000500264.1:p.Asp198Ala
ENST00000673284.1:c.593A>C	ENSP00000499852.1:p.Asp198Ala
ENST00000345378.6:c.596A>C	ENSP00000223366.2:p.Asp199Ala
ENST00000395796.7:c.590A>C	ENSP00000379142.3:p.Asp197Ala
ENST00000403799.7:c.593A>C	ENSP00000384247.3:p.Asp198Ala
ENST00000437084.1:c.542A>C	ENSP00000402840.1:p.Asp181Ala
ENST00000616242.4:c.590A>C	ENSP00000482149.1:p.Asp197Ala
NM_000162.3:c.593A>C	NP_000153.1:p.Asp198Ala
NM_033507.1:c.596A>C	NP_277042.1:p.Asp199Ala
NM_033508.1:c.590A>C	NP_277043.1:p.Asp197Ala
NM_000162.4:c.593A>C	NP_000153.1:p.Asp198Ala
NM_001354800.1:c.593A>C	NP_001341729.1:p.Asp198Ala
NM_033507.2:c.596A>C	NP_277042.1:p.Asp199Ala
NM_033508.2:c.590A>C	NP_277043.1:p.Asp197Ala
NM_000162.5:c.593A>C MANE Select	NP_000153.1:p.Asp198Ala
NM_033507.3:c.596A>C	NP_277042.1:p.Asp199Ala
NM_033508.3:c.590A>C	NP_277043.1:p.Asp197Ala