Canonical Allele Identifier: CA367399970

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44186146T>G (hg19) ; chr7:g.44146547T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146547T>G , CM000669.2:g.44146547T>G	GRCh38
NC_000007.13:g.44186146T>G , CM000669.1:g.44186146T>G	GRCh37
NC_000007.12:g.44152671T>G	NCBI36
NG_008847.1:g.47877A>C
NG_008847.2:g.56624A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*933A>C	ENSP00000379142.4:n.*933A>C
ENST00000616242.5:c.*55A>C	ENSP00000482149.2:n.*55A>C
ENST00000683378.1:n.161A>C
ENST00000345378.7:c.938A>C	ENSP00000223366.2:p.Glu313Ala
ENST00000403799.8:c.935A>C MANE Select	ENSP00000384247.3:p.Glu312Ala
ENST00000671824.1:c.998A>C	ENSP00000500264.1:p.Glu333Ala
ENST00000673284.1:c.935A>C	ENSP00000499852.1:p.Glu312Ala
ENST00000345378.6:c.938A>C	ENSP00000223366.2:p.Glu313Ala
ENST00000395796.7:c.932A>C	ENSP00000379142.3:p.Glu311Ala
ENST00000403799.7:c.935A>C	ENSP00000384247.3:p.Glu312Ala
ENST00000437084.1:c.884A>C	ENSP00000402840.1:p.Glu295Ala
ENST00000473353.1:n.233A>C
ENST00000616242.4:c.932A>C	ENSP00000482149.1:p.Glu311Ala
NM_000162.3:c.935A>C	NP_000153.1:p.Glu312Ala
NM_033507.1:c.938A>C	NP_277042.1:p.Glu313Ala
NM_033508.1:c.932A>C	NP_277043.1:p.Glu311Ala
NM_000162.4:c.935A>C	NP_000153.1:p.Glu312Ala
NM_001354800.1:c.935A>C	NP_001341729.1:p.Glu312Ala
NM_001354801.1:c.8+72A>C	NP_001341730.1:n.8+72A>C
NM_033507.2:c.938A>C	NP_277042.1:p.Glu313Ala
NM_033508.2:c.932A>C	NP_277043.1:p.Glu311Ala
NM_000162.5:c.935A>C MANE Select	NP_000153.1:p.Glu312Ala
NM_033507.3:c.938A>C	NP_277042.1:p.Glu313Ala
NM_033508.3:c.932A>C	NP_277043.1:p.Glu311Ala