Canonical Allele Identifier: CA367400618

Gene: GCK

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147756C>A , CM000669.2:g.44147756C>A	GRCh38
NC_000007.13:g.44187355C>A , CM000669.1:g.44187355C>A	GRCh37
NC_000007.12:g.44153880C>A	NCBI36
NG_008847.1:g.46668G>T
NG_008847.2:g.55415G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000162.5:c.757G>T MANE Select	NP_000153.1:p.Val253Phe
ENST00000403799.8:c.757G>T MANE Select	ENSP00000384247.3:p.Val253Phe
NM_000162.3:c.757G>T	NP_000153.1:p.Val253Phe
NM_000162.4:c.757G>T	NP_000153.1:p.Val253Phe
NM_001354800.1:c.757G>T	NP_001341729.1:p.Val253Phe
NM_033507.1:c.760G>T	NP_277042.1:p.Val254Phe
NM_033507.2:c.760G>T	NP_277042.1:p.Val254Phe
NM_033507.3:c.760G>T	NP_277042.1:p.Val254Phe
NM_033508.1:c.754G>T	NP_277043.1:p.Val252Phe
NM_033508.2:c.754G>T	NP_277043.1:p.Val252Phe
NM_033508.3:c.754G>T	NP_277043.1:p.Val252Phe
ENST00000345378.6:c.760G>T	ENSP00000223366.2:p.Val254Phe
ENST00000345378.7:c.760G>T	ENSP00000223366.2:p.Val254Phe
ENST00000395796.7:c.754G>T	ENSP00000379142.3:p.Val252Phe
ENST00000395796.8:c.*755G>T	ENSP00000379142.4:n.*755G>T
ENST00000403799.7:c.757G>T	ENSP00000384247.3:p.Val253Phe
ENST00000437084.1:c.706G>T	ENSP00000402840.1:p.Val236Phe
ENST00000616242.4:c.754G>T	ENSP00000482149.1:p.Val252Phe
ENST00000616242.5:c.757G>T	ENSP00000482149.2:p.Val253Phe
ENST00000671824.1:c.757G>T	ENSP00000500264.1:p.Val253Phe
ENST00000673284.1:c.757G>T	ENSP00000499852.1:p.Val253Phe
XR_927223.1:n.82+8C>A
XR_927223.2:n.82+8C>A