Canonical Allele Identifier: CA367400498

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44187296C>G (hg19) ; chr7:g.44147697C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147697C>G , CM000669.2:g.44147697C>G	GRCh38
NC_000007.13:g.44187296C>G , CM000669.1:g.44187296C>G	GRCh37
NC_000007.12:g.44153821C>G	NCBI36
NG_008847.1:g.46727G>C
NG_008847.2:g.55474G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*814G>C	ENSP00000379142.4:n.*814G>C
ENST00000616242.5:c.816G>C	ENSP00000482149.2:p.Glu272Asp
ENST00000345378.7:c.819G>C	ENSP00000223366.2:p.Glu273Asp
ENST00000403799.8:c.816G>C MANE Select	ENSP00000384247.3:p.Glu272Asp
ENST00000671824.1:c.816G>C	ENSP00000500264.1:p.Glu272Asp
ENST00000673284.1:c.816G>C	ENSP00000499852.1:p.Glu272Asp
ENST00000345378.6:c.819G>C	ENSP00000223366.2:p.Glu273Asp
ENST00000395796.7:c.813G>C	ENSP00000379142.3:p.Glu271Asp
ENST00000403799.7:c.816G>C	ENSP00000384247.3:p.Glu272Asp
ENST00000437084.1:c.765G>C	ENSP00000402840.1:p.Glu255Asp
ENST00000616242.4:c.813G>C	ENSP00000482149.1:p.Glu271Asp
NM_000162.3:c.816G>C	NP_000153.1:p.Glu272Asp
NM_033507.1:c.819G>C	NP_277042.1:p.Glu273Asp
NM_033508.1:c.813G>C	NP_277043.1:p.Glu271Asp
XR_927223.1:n.31C>G
NM_000162.4:c.816G>C	NP_000153.1:p.Glu272Asp
NM_001354800.1:c.816G>C	NP_001341729.1:p.Glu272Asp
NM_033507.2:c.819G>C	NP_277042.1:p.Glu273Asp
NM_033508.2:c.813G>C	NP_277043.1:p.Glu271Asp
XR_927223.2:n.31C>G
NM_000162.5:c.816G>C MANE Select	NP_000153.1:p.Glu272Asp
NM_033507.3:c.819G>C	NP_277042.1:p.Glu273Asp
NM_033508.3:c.813G>C	NP_277043.1:p.Glu271Asp