Canonical Allele Identifier: CA367396848

Gene: GCK

Linked Data

• gnomAD v4: 7-44145167-G-T
• MyVariant Identifiers: chr7:g.44184766G>T (hg19) ; chr7:g.44145167G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145167G>T , CM000669.2:g.44145167G>T	GRCh38
NC_000007.13:g.44184766G>T , CM000669.1:g.44184766G>T	GRCh37
NC_000007.12:g.44151291G>T	NCBI36
NG_008847.1:g.49257C>A
NG_008847.2:g.58004C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1365C>A	ENSP00000379142.4:n.*1365C>A
ENST00000616242.5:c.*487C>A	ENSP00000482149.2:n.*487C>A
ENST00000683378.1:n.593C>A
ENST00000336642.9:c.401C>A	ENSP00000338009.5:p.Ala134Asp
ENST00000345378.7:c.1370C>A	ENSP00000223366.2:p.Ala457Asp
ENST00000403799.8:c.1367C>A MANE Select	ENSP00000384247.3:p.Ala456Asp
ENST00000671824.1:c.1430C>A	ENSP00000500264.1:p.Ala477Asp
ENST00000672743.1:n.379C>A
ENST00000673284.1:c.1367C>A	ENSP00000499852.1:p.Ala456Asp
ENST00000336642.8:c.419C>A	ENSP00000338009.4:p.Ala140Asp
ENST00000345378.6:c.1370C>A	ENSP00000223366.2:p.Ala457Asp
ENST00000395796.7:c.1364C>A	ENSP00000379142.3:p.Ala455Asp
ENST00000403799.7:c.1367C>A	ENSP00000384247.3:p.Ala456Asp
ENST00000437084.1:c.1316C>A	ENSP00000402840.1:p.Ala439Asp
ENST00000459642.1:n.747C>A
ENST00000616242.4:c.1364C>A	ENSP00000482149.1:p.Ala455Asp
NM_000162.3:c.1367C>A	NP_000153.1:p.Ala456Asp
NM_033507.1:c.1370C>A	NP_277042.1:p.Ala457Asp
NM_033508.1:c.1364C>A	NP_277043.1:p.Ala455Asp
NM_000162.4:c.1367C>A	NP_000153.1:p.Ala456Asp
NM_001354800.1:c.1367C>A	NP_001341729.1:p.Ala456Asp
NM_001354801.1:c.356C>A	NP_001341730.1:p.Ala119Asp
NM_001354802.1:c.227C>A	NP_001341731.1:p.Ala76Asp
NM_001354803.1:c.401C>A	NP_001341732.1:p.Ala134Asp
NM_033507.2:c.1370C>A	NP_277042.1:p.Ala457Asp
NM_033508.2:c.1364C>A	NP_277043.1:p.Ala455Asp
XM_024446707.1:c.227C>A	XP_024302475.1:p.Ala76Asp
NM_000162.5:c.1367C>A MANE Select	NP_000153.1:p.Ala456Asp
NM_033507.3:c.1370C>A	NP_277042.1:p.Ala457Asp
NM_033508.3:c.1364C>A	NP_277043.1:p.Ala455Asp
NM_001354803.2:c.401C>A	NP_001341732.1:p.Ala134Asp