Canonical Allele Identifier: CA2578878418

Gene: GCK

Linked Data

• gnomAD v4: 7-44145115-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145115C>A , CM000669.2:g.44145115C>A	GRCh38
NC_000007.13:g.44184714C>A , CM000669.1:g.44184714C>A	GRCh37
NC_000007.12:g.44151239C>A	NCBI36
NG_008847.1:g.49309G>T
NG_008847.2:g.58056G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1417G>T	ENSP00000379142.4:n.*1417G>T
ENST00000616242.5:c.*539G>T	ENSP00000482149.2:n.*539G>T
ENST00000683378.1:n.645G>T
ENST00000336642.9:c.*21G>T	ENSP00000338009.5:n.*21G>T
ENST00000345378.7:c.*21G>T	ENSP00000223366.2:n.*21G>T
ENST00000403799.8:c.*21G>T MANE Select	ENSP00000384247.3:n.*21G>T
ENST00000671824.1:c.*21G>T	ENSP00000500264.1:n.*21G>T
ENST00000672743.1:n.381+50G>T
ENST00000673284.1:c.1369+50G>T	ENSP00000499852.1:n.1369+50G>T
ENST00000336642.8:c.471G>T	ENSP00000338009.4:n.471G>T
ENST00000345378.6:c.*21G>T	ENSP00000223366.2:n.*21G>T
ENST00000395796.7:c.*21G>T	ENSP00000379142.3:n.*21G>T
ENST00000403799.7:c.*21G>T	ENSP00000384247.3:n.*21G>T
ENST00000459642.1:n.799G>T
ENST00000616242.4:c.1416G>T	ENSP00000482149.1:n.1416G>T
NM_000162.3:c.*21G>T	NP_000153.1:n.*21G>T
NM_033507.1:c.*21G>T	NP_277042.1:n.*21G>T
NM_033508.1:c.*21G>T	NP_277043.1:n.*21G>T
NM_000162.4:c.*21G>T	NP_000153.1:n.*21G>T
NM_001354800.1:c.1369+50G>T	NP_001341729.1:n.1369+50G>T
NM_001354801.1:c.*21G>T	NP_001341730.1:n.*21G>T
NM_001354802.1:c.229+50G>T	NP_001341731.1:n.229+50G>T
NM_001354803.1:c.*21G>T	NP_001341732.1:n.*21G>T
NM_033507.2:c.*21G>T	NP_277042.1:n.*21G>T
NM_033508.2:c.*21G>T	NP_277043.1:n.*21G>T
XM_024446707.1:c.*21G>T	XP_024302475.1:n.*21G>T
NM_000162.5:c.*21G>T MANE Select	NP_000153.1:n.*21G>T
NM_033507.3:c.*21G>T	NP_277042.1:n.*21G>T
NM_033508.3:c.*21G>T	NP_277043.1:n.*21G>T
NM_001354803.2:c.*21G>T	NP_001341732.1:n.*21G>T