Canonical Allele Identifier: CA2682580056

Gene: GCK

Linked Data

• gnomAD v4: 7-44145083-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145083A>G , CM000669.2:g.44145083A>G	GRCh38
NC_000007.13:g.44184682A>G , CM000669.1:g.44184682A>G	GRCh37
NC_000007.12:g.44151207A>G	NCBI36
NG_008847.1:g.49341T>C
NG_008847.2:g.58088T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1449T>C	ENSP00000379142.4:n.*1449T>C
ENST00000616242.5:c.*571T>C	ENSP00000482149.2:n.*571T>C
ENST00000683378.1:n.677T>C
ENST00000336642.9:c.*53T>C	ENSP00000338009.5:n.*53T>C
ENST00000345378.7:c.*53T>C	ENSP00000223366.2:n.*53T>C
ENST00000403799.8:c.*53T>C MANE Select	ENSP00000384247.3:n.*53T>C
ENST00000671824.1:c.*53T>C	ENSP00000500264.1:n.*53T>C
ENST00000672743.1:n.381+82T>C
ENST00000673284.1:c.1369+82T>C	ENSP00000499852.1:n.1369+82T>C
ENST00000336642.8:c.503T>C	ENSP00000338009.4:n.503T>C
ENST00000345378.6:c.*53T>C	ENSP00000223366.2:n.*53T>C
ENST00000395796.7:c.*53T>C	ENSP00000379142.3:n.*53T>C
ENST00000403799.7:c.*53T>C	ENSP00000384247.3:n.*53T>C
ENST00000459642.1:n.831T>C
ENST00000616242.4:c.1448T>C	ENSP00000482149.1:n.1448T>C
NM_000162.3:c.*53T>C	NP_000153.1:n.*53T>C
NM_033507.1:c.*53T>C	NP_277042.1:n.*53T>C
NM_033508.1:c.*53T>C	NP_277043.1:n.*53T>C
NM_000162.4:c.*53T>C	NP_000153.1:n.*53T>C
NM_001354800.1:c.1369+82T>C	NP_001341729.1:n.1369+82T>C
NM_001354801.1:c.*53T>C	NP_001341730.1:n.*53T>C
NM_001354802.1:c.229+82T>C	NP_001341731.1:n.229+82T>C
NM_001354803.1:c.*53T>C	NP_001341732.1:n.*53T>C
NM_033507.2:c.*53T>C	NP_277042.1:n.*53T>C
NM_033508.2:c.*53T>C	NP_277043.1:n.*53T>C
XM_024446707.1:c.*53T>C	XP_024302475.1:n.*53T>C
NM_000162.5:c.*53T>C MANE Select	NP_000153.1:n.*53T>C
NM_033507.3:c.*53T>C	NP_277042.1:n.*53T>C
NM_033508.3:c.*53T>C	NP_277043.1:n.*53T>C
NM_001354803.2:c.*53T>C	NP_001341732.1:n.*53T>C