Canonical Allele Identifier: CA454607803

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44186109C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146510C>A , CM000669.2:g.44146510C>A	GRCh38
NC_000007.13:g.44186109C>A , CM000669.1:g.44186109C>A	GRCh37
NC_000007.12:g.44152634C>A	NCBI36
NG_008847.1:g.47914G>T
NG_008847.2:g.56661G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*970G>T	ENSP00000379142.4:n.*970G>T
ENST00000616242.5:c.*92G>T	ENSP00000482149.2:n.*92G>T
ENST00000683378.1:n.198G>T
ENST00000345378.7:c.975G>T	ENSP00000223366.2:p.Leu325=
ENST00000403799.8:c.972G>T MANE Select	ENSP00000384247.3:p.Leu324=
ENST00000671824.1:c.1035G>T	ENSP00000500264.1:p.Leu345=
ENST00000673284.1:c.972G>T	ENSP00000499852.1:p.Leu324=
ENST00000345378.6:c.975G>T	ENSP00000223366.2:p.Leu325=
ENST00000395796.7:c.969G>T	ENSP00000379142.3:p.Leu323=
ENST00000403799.7:c.972G>T	ENSP00000384247.3:p.Leu324=
ENST00000437084.1:c.921G>T	ENSP00000402840.1:p.Leu307=
ENST00000473353.1:n.270G>T
ENST00000616242.4:c.969G>T	ENSP00000482149.1:p.Leu323=
NM_000162.3:c.972G>T	NP_000153.1:p.Leu324=
NM_033507.1:c.975G>T	NP_277042.1:p.Leu325=
NM_033508.1:c.969G>T	NP_277043.1:p.Leu323=
NM_000162.4:c.972G>T	NP_000153.1:p.Leu324=
NM_001354800.1:c.972G>T	NP_001341729.1:p.Leu324=
NM_001354801.1:c.8+109G>T	NP_001341730.1:n.8+109G>T
NM_033507.2:c.975G>T	NP_277042.1:p.Leu325=
NM_033508.2:c.969G>T	NP_277043.1:p.Leu323=
NM_000162.5:c.972G>T MANE Select	NP_000153.1:p.Leu324=
NM_033507.3:c.975G>T	NP_277042.1:p.Leu325=
NM_033508.3:c.969G>T	NP_277043.1:p.Leu323=