Canonical Allele Identifier: CA367399894

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44186124C>G (hg19) ; chr7:g.44146525C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146525C>G , CM000669.2:g.44146525C>G	GRCh38
NC_000007.13:g.44186124C>G , CM000669.1:g.44186124C>G	GRCh37
NC_000007.12:g.44152649C>G	NCBI36
NG_008847.1:g.47899G>C
NG_008847.2:g.56646G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*955G>C	ENSP00000379142.4:n.*955G>C
ENST00000616242.5:c.*77G>C	ENSP00000482149.2:n.*77G>C
ENST00000683378.1:n.183G>C
ENST00000345378.7:c.960G>C	ENSP00000223366.2:p.Glu320Asp
ENST00000403799.8:c.957G>C MANE Select	ENSP00000384247.3:p.Glu319Asp
ENST00000671824.1:c.1020G>C	ENSP00000500264.1:p.Glu340Asp
ENST00000673284.1:c.957G>C	ENSP00000499852.1:p.Glu319Asp
ENST00000345378.6:c.960G>C	ENSP00000223366.2:p.Glu320Asp
ENST00000395796.7:c.954G>C	ENSP00000379142.3:p.Glu318Asp
ENST00000403799.7:c.957G>C	ENSP00000384247.3:p.Glu319Asp
ENST00000437084.1:c.906G>C	ENSP00000402840.1:p.Glu302Asp
ENST00000473353.1:n.255G>C
ENST00000616242.4:c.954G>C	ENSP00000482149.1:p.Glu318Asp
NM_000162.3:c.957G>C	NP_000153.1:p.Glu319Asp
NM_033507.1:c.960G>C	NP_277042.1:p.Glu320Asp
NM_033508.1:c.954G>C	NP_277043.1:p.Glu318Asp
NM_000162.4:c.957G>C	NP_000153.1:p.Glu319Asp
NM_001354800.1:c.957G>C	NP_001341729.1:p.Glu319Asp
NM_001354801.1:c.8+94G>C	NP_001341730.1:n.8+94G>C
NM_033507.2:c.960G>C	NP_277042.1:p.Glu320Asp
NM_033508.2:c.954G>C	NP_277043.1:p.Glu318Asp
NM_000162.5:c.957G>C MANE Select	NP_000153.1:p.Glu319Asp
NM_033507.3:c.960G>C	NP_277042.1:p.Glu320Asp
NM_033508.3:c.954G>C	NP_277043.1:p.Glu318Asp