Canonical Allele Identifier: CA367397100

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184828C>G (hg19) ; chr7:g.44145229C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145229C>G , CM000669.2:g.44145229C>G	GRCh38
NC_000007.13:g.44184828C>G , CM000669.1:g.44184828C>G	GRCh37
NC_000007.12:g.44151353C>G	NCBI36
NG_008847.1:g.49195G>C
NG_008847.2:g.57942G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1303G>C	ENSP00000379142.4:n.*1303G>C
ENST00000616242.5:c.*425G>C	ENSP00000482149.2:n.*425G>C
ENST00000683378.1:n.531G>C
ENST00000336642.9:c.339G>C	ENSP00000338009.5:p.Glu113Asp
ENST00000345378.7:c.1308G>C	ENSP00000223366.2:p.Glu436Asp
ENST00000403799.8:c.1305G>C MANE Select	ENSP00000384247.3:p.Glu435Asp
ENST00000671824.1:c.1368G>C	ENSP00000500264.1:p.Glu456Asp
ENST00000672743.1:n.317G>C
ENST00000673284.1:c.1305G>C	ENSP00000499852.1:p.Glu435Asp
ENST00000336642.8:c.357G>C	ENSP00000338009.4:p.Glu119Asp
ENST00000345378.6:c.1308G>C	ENSP00000223366.2:p.Glu436Asp
ENST00000395796.7:c.1302G>C	ENSP00000379142.3:p.Glu434Asp
ENST00000403799.7:c.1305G>C	ENSP00000384247.3:p.Glu435Asp
ENST00000437084.1:c.1254G>C	ENSP00000402840.1:p.Glu418Asp
ENST00000459642.1:n.685G>C
ENST00000616242.4:c.1302G>C	ENSP00000482149.1:p.Glu434Asp
NM_000162.3:c.1305G>C	NP_000153.1:p.Glu435Asp
NM_033507.1:c.1308G>C	NP_277042.1:p.Glu436Asp
NM_033508.1:c.1302G>C	NP_277043.1:p.Glu434Asp
NM_000162.4:c.1305G>C	NP_000153.1:p.Glu435Asp
NM_001354800.1:c.1305G>C	NP_001341729.1:p.Glu435Asp
NM_001354801.1:c.294G>C	NP_001341730.1:p.Glu98Asp
NM_001354802.1:c.165G>C	NP_001341731.1:p.Glu55Asp
NM_001354803.1:c.339G>C	NP_001341732.1:p.Glu113Asp
NM_033507.2:c.1308G>C	NP_277042.1:p.Glu436Asp
NM_033508.2:c.1302G>C	NP_277043.1:p.Glu434Asp
XM_024446707.1:c.165G>C	XP_024302475.1:p.Glu55Asp
NM_000162.5:c.1305G>C MANE Select	NP_000153.1:p.Glu435Asp
NM_033507.3:c.1308G>C	NP_277042.1:p.Glu436Asp
NM_033508.3:c.1302G>C	NP_277043.1:p.Glu434Asp
NM_001354803.2:c.339G>C	NP_001341732.1:p.Glu113Asp