Canonical Allele Identifier: CA367397148
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs2096270626
gnomAD v3: 7-44145240-G-A
gnomAD v4: 7-44145240-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145240G>A , CM000669.2:g.44145240G>A GRCh38
NC_000007.13:g.44184839G>A , CM000669.1:g.44184839G>A GRCh37
NC_000007.12:g.44151364G>A NCBI36
NG_008847.1:g.49184C>T
NG_008847.2:g.57931C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1292C>T ENSP00000379142.4:n.*1292C>T
ENST00000616242.5:c.*414C>T ENSP00000482149.2:n.*414C>T
ENST00000683378.1:n.520C>T
ENST00000336642.9:c.328C>T ENSP00000338009.5:p.Pro110Ser
ENST00000345378.7:c.1297C>T ENSP00000223366.2:p.Pro433Ser
ENST00000403799.8:c.1294C>T MANE Select ENSP00000384247.3:p.Pro432Ser
ENST00000671824.1:c.1357C>T ENSP00000500264.1:p.Pro453Ser
ENST00000672743.1:n.306C>T
ENST00000673284.1:c.1294C>T ENSP00000499852.1:p.Pro432Ser
ENST00000336642.8:c.346C>T ENSP00000338009.4:p.Pro116Ser
ENST00000345378.6:c.1297C>T ENSP00000223366.2:p.Pro433Ser
ENST00000395796.7:c.1291C>T ENSP00000379142.3:p.Pro431Ser
ENST00000403799.7:c.1294C>T ENSP00000384247.3:p.Pro432Ser
ENST00000437084.1:c.1243C>T ENSP00000402840.1:p.Pro415Ser
ENST00000459642.1:n.674C>T
ENST00000616242.4:c.1291C>T ENSP00000482149.1:p.Pro431Ser
NM_000162.3:c.1294C>T NP_000153.1:p.Pro432Ser
NM_033507.1:c.1297C>T NP_277042.1:p.Pro433Ser
NM_033508.1:c.1291C>T NP_277043.1:p.Pro431Ser
NM_000162.4:c.1294C>T NP_000153.1:p.Pro432Ser
NM_001354800.1:c.1294C>T NP_001341729.1:p.Pro432Ser
NM_001354801.1:c.283C>T NP_001341730.1:p.Pro95Ser
NM_001354802.1:c.154C>T NP_001341731.1:p.Pro52Ser
NM_001354803.1:c.328C>T NP_001341732.1:p.Pro110Ser
NM_033507.2:c.1297C>T NP_277042.1:p.Pro433Ser
NM_033508.2:c.1291C>T NP_277043.1:p.Pro431Ser
XM_024446707.1:c.154C>T XP_024302475.1:p.Pro52Ser
NM_000162.5:c.1294C>T MANE Select NP_000153.1:p.Pro432Ser
NM_033507.3:c.1297C>T NP_277042.1:p.Pro433Ser
NM_033508.3:c.1291C>T NP_277043.1:p.Pro431Ser
NM_001354803.2:c.328C>T NP_001341732.1:p.Pro110Ser