Canonical Allele Identifier: CA4239518

Gene: GCK

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147689C>T , CM000669.2:g.44147689C>T	GRCh38
NC_000007.13:g.44187288C>T , CM000669.1:g.44187288C>T	GRCh37
NC_000007.12:g.44153813C>T	NCBI36
NG_008847.1:g.46735G>A
NG_008847.2:g.55482G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000162.5:c.824G>A MANE Select	NP_000153.1:p.Arg275His
ENST00000403799.8:c.824G>A MANE Select	ENSP00000384247.3:p.Arg275His
NM_000162.3:c.824G>A	NP_000153.1:p.Arg275His
NM_000162.4:c.824G>A	NP_000153.1:p.Arg275His
NM_001354800.1:c.824G>A	NP_001341729.1:p.Arg275His
NM_033507.1:c.827G>A	NP_277042.1:p.Arg276His
NM_033507.2:c.827G>A	NP_277042.1:p.Arg276His
NM_033507.3:c.827G>A	NP_277042.1:p.Arg276His
NM_033508.1:c.821G>A	NP_277043.1:p.Arg274His
NM_033508.2:c.821G>A	NP_277043.1:p.Arg274His
NM_033508.3:c.821G>A	NP_277043.1:p.Arg274His
ENST00000345378.6:c.827G>A	ENSP00000223366.2:p.Arg276His
ENST00000345378.7:c.827G>A	ENSP00000223366.2:p.Arg276His
ENST00000395796.7:c.821G>A	ENSP00000379142.3:p.Arg274His
ENST00000395796.8:c.*822G>A	ENSP00000379142.4:n.*822G>A
ENST00000403799.7:c.824G>A	ENSP00000384247.3:p.Arg275His
ENST00000437084.1:c.773G>A	ENSP00000402840.1:p.Arg258His
ENST00000616242.4:c.821G>A	ENSP00000482149.1:p.Arg274His
ENST00000616242.5:c.824G>A	ENSP00000482149.2:p.Arg275His
ENST00000671824.1:c.824G>A	ENSP00000500264.1:p.Arg275His
ENST00000673284.1:c.824G>A	ENSP00000499852.1:p.Arg275His
XR_927223.1:n.23C>T
XR_927223.2:n.23C>T