Canonical Allele Identifier: CA1703612613

Gene: GCK

Linked Data

• dbSNP Id: rs2096270246
• gnomAD v4: 7-44145084-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145084G>A , CM000669.2:g.44145084G>A	GRCh38
NC_000007.13:g.44184683G>A , CM000669.1:g.44184683G>A	GRCh37
NC_000007.12:g.44151208G>A	NCBI36
NG_008847.1:g.49340C>T
NG_008847.2:g.58087C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1448C>T	ENSP00000379142.4:n.*1448C>T
ENST00000616242.5:c.*570C>T	ENSP00000482149.2:n.*570C>T
ENST00000683378.1:n.676C>T
ENST00000336642.9:c.*52C>T	ENSP00000338009.5:n.*52C>T
ENST00000345378.7:c.*52C>T	ENSP00000223366.2:n.*52C>T
ENST00000403799.8:c.*52C>T MANE Select	ENSP00000384247.3:n.*52C>T
ENST00000671824.1:c.*52C>T	ENSP00000500264.1:n.*52C>T
ENST00000672743.1:n.381+81C>T
ENST00000673284.1:c.1369+81C>T	ENSP00000499852.1:n.1369+81C>T
ENST00000336642.8:c.502C>T	ENSP00000338009.4:n.502C>T
ENST00000345378.6:c.*52C>T	ENSP00000223366.2:n.*52C>T
ENST00000395796.7:c.*52C>T	ENSP00000379142.3:n.*52C>T
ENST00000403799.7:c.*52C>T	ENSP00000384247.3:n.*52C>T
ENST00000459642.1:n.830C>T
ENST00000616242.4:c.1447C>T	ENSP00000482149.1:n.1447C>T
NM_000162.3:c.*52C>T	NP_000153.1:n.*52C>T
NM_033507.1:c.*52C>T	NP_277042.1:n.*52C>T
NM_033508.1:c.*52C>T	NP_277043.1:n.*52C>T
NM_000162.4:c.*52C>T	NP_000153.1:n.*52C>T
NM_001354800.1:c.1369+81C>T	NP_001341729.1:n.1369+81C>T
NM_001354801.1:c.*52C>T	NP_001341730.1:n.*52C>T
NM_001354802.1:c.229+81C>T	NP_001341731.1:n.229+81C>T
NM_001354803.1:c.*52C>T	NP_001341732.1:n.*52C>T
NM_033507.2:c.*52C>T	NP_277042.1:n.*52C>T
NM_033508.2:c.*52C>T	NP_277043.1:n.*52C>T
XM_024446707.1:c.*52C>T	XP_024302475.1:n.*52C>T
NM_000162.5:c.*52C>T MANE Select	NP_000153.1:n.*52C>T
NM_033507.3:c.*52C>T	NP_277042.1:n.*52C>T
NM_033508.3:c.*52C>T	NP_277043.1:n.*52C>T
NM_001354803.2:c.*52C>T	NP_001341732.1:n.*52C>T