Canonical Allele Identifier: CA367399861

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44186115C>A (hg19) ; chr7:g.44146516C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146516C>A , CM000669.2:g.44146516C>A	GRCh38
NC_000007.13:g.44186115C>A , CM000669.1:g.44186115C>A	GRCh37
NC_000007.12:g.44152640C>A	NCBI36
NG_008847.1:g.47908G>T
NG_008847.2:g.56655G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*964G>T	ENSP00000379142.4:n.*964G>T
ENST00000616242.5:c.*86G>T	ENSP00000482149.2:n.*86G>T
ENST00000683378.1:n.192G>T
ENST00000345378.7:c.969G>T	ENSP00000223366.2:p.Glu323Asp
ENST00000403799.8:c.966G>T MANE Select	ENSP00000384247.3:p.Glu322Asp
ENST00000671824.1:c.1029G>T	ENSP00000500264.1:p.Glu343Asp
ENST00000673284.1:c.966G>T	ENSP00000499852.1:p.Glu322Asp
ENST00000345378.6:c.969G>T	ENSP00000223366.2:p.Glu323Asp
ENST00000395796.7:c.963G>T	ENSP00000379142.3:p.Glu321Asp
ENST00000403799.7:c.966G>T	ENSP00000384247.3:p.Glu322Asp
ENST00000437084.1:c.915G>T	ENSP00000402840.1:p.Glu305Asp
ENST00000473353.1:n.264G>T
ENST00000616242.4:c.963G>T	ENSP00000482149.1:p.Glu321Asp
NM_000162.3:c.966G>T	NP_000153.1:p.Glu322Asp
NM_033507.1:c.969G>T	NP_277042.1:p.Glu323Asp
NM_033508.1:c.963G>T	NP_277043.1:p.Glu321Asp
NM_000162.4:c.966G>T	NP_000153.1:p.Glu322Asp
NM_001354800.1:c.966G>T	NP_001341729.1:p.Glu322Asp
NM_001354801.1:c.8+103G>T	NP_001341730.1:n.8+103G>T
NM_033507.2:c.969G>T	NP_277042.1:p.Glu323Asp
NM_033508.2:c.963G>T	NP_277043.1:p.Glu321Asp
NM_000162.5:c.966G>T MANE Select	NP_000153.1:p.Glu322Asp
NM_033507.3:c.969G>T	NP_277042.1:p.Glu323Asp
NM_033508.3:c.963G>T	NP_277043.1:p.Glu321Asp