Canonical Allele Identifier: CA2682580796
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145318-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145318C>A , CM000669.2:g.44145318C>A GRCh38
NC_000007.13:g.44184917C>A , CM000669.1:g.44184917C>A GRCh37
NC_000007.12:g.44151442C>A NCBI36
NG_008847.1:g.49106G>T
NG_008847.2:g.57853G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1252-38G>T ENSP00000379142.4:n.*1252-38G>T
ENST00000616242.5:c.*374-38G>T ENSP00000482149.2:n.*374-38G>T
ENST00000683378.1:n.480-38G>T
ENST00000336642.9:c.288-38G>T ENSP00000338009.5:n.288-38G>T
ENST00000345378.7:c.1257-38G>T ENSP00000223366.2:n.1257-38G>T
ENST00000403799.8:c.1254-38G>T MANE Select ENSP00000384247.3:n.1254-38G>T
ENST00000671824.1:c.1317-38G>T ENSP00000500264.1:n.1317-38G>T
ENST00000672743.1:n.266-38G>T
ENST00000673284.1:c.1254-38G>T ENSP00000499852.1:n.1254-38G>T
ENST00000336642.8:c.306-38G>T ENSP00000338009.4:n.306-38G>T
ENST00000345378.6:c.1257-38G>T ENSP00000223366.2:n.1257-38G>T
ENST00000395796.7:c.1251-38G>T ENSP00000379142.3:n.1251-38G>T
ENST00000403799.7:c.1254-38G>T ENSP00000384247.3:n.1254-38G>T
ENST00000437084.1:c.1203-38G>T ENSP00000402840.1:n.1203-38G>T
ENST00000459642.1:n.634-38G>T
ENST00000616242.4:c.1251-38G>T ENSP00000482149.1:n.1251-38G>T
NM_000162.3:c.1254-38G>T NP_000153.1:n.1254-38G>T
NM_033507.1:c.1257-38G>T NP_277042.1:n.1257-38G>T
NM_033508.1:c.1251-38G>T NP_277043.1:n.1251-38G>T
NM_000162.4:c.1254-38G>T NP_000153.1:n.1254-38G>T
NM_001354800.1:c.1254-38G>T NP_001341729.1:n.1254-38G>T
NM_001354801.1:c.243-38G>T NP_001341730.1:n.243-38G>T
NM_001354802.1:c.114-38G>T NP_001341731.1:n.114-38G>T
NM_001354803.1:c.288-38G>T NP_001341732.1:n.288-38G>T
NM_033507.2:c.1257-38G>T NP_277042.1:n.1257-38G>T
NM_033508.2:c.1251-38G>T NP_277043.1:n.1251-38G>T
XM_024446707.1:c.114-38G>T XP_024302475.1:n.114-38G>T
NM_000162.5:c.1254-38G>T MANE Select NP_000153.1:n.1254-38G>T
NM_033507.3:c.1257-38G>T NP_277042.1:n.1257-38G>T
NM_033508.3:c.1251-38G>T NP_277043.1:n.1251-38G>T
NM_001354803.2:c.288-38G>T NP_001341732.1:n.288-38G>T