Canonical Allele Identifier: CA838788482
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1265071521
gnomAD v4: 7-44144809-C-T
MyVariant Identifiers: chr7:g.44184408C>T (hg19) chr7:g.44144809C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44144809C>T , CM000669.2:g.44144809C>T GRCh38
NC_000007.13:g.44184408C>T , CM000669.1:g.44184408C>T GRCh37
NC_000007.12:g.44150933C>T NCBI36
NG_008847.1:g.49615G>A
NG_008847.2:g.58362G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1723G>A ENSP00000379142.4:n.*1723G>A
ENST00000616242.5:c.*845G>A ENSP00000482149.2:n.*845G>A
ENST00000683378.1:n.951G>A
ENST00000336642.9:c.*327G>A ENSP00000338009.5:n.*327G>A
ENST00000345378.7:c.*327G>A ENSP00000223366.2:n.*327G>A
ENST00000403799.8:c.*327G>A MANE Select ENSP00000384247.3:n.*327G>A
ENST00000671824.1:c.*327G>A ENSP00000500264.1:n.*327G>A
ENST00000672743.1:n.381+356G>A
ENST00000673284.1:c.1369+356G>A ENSP00000499852.1:n.1369+356G>A
ENST00000336642.8:c.777G>A ENSP00000338009.4:n.777G>A
ENST00000345378.6:c.*327G>A ENSP00000223366.2:n.*327G>A
ENST00000395796.7:c.*327G>A ENSP00000379142.3:n.*327G>A
ENST00000403799.7:c.*327G>A ENSP00000384247.3:n.*327G>A
ENST00000459642.1:n.1105G>A
ENST00000616242.4:c.1722G>A ENSP00000482149.1:n.1722G>A
NM_000162.3:c.*327G>A NP_000153.1:n.*327G>A
NM_033507.1:c.*327G>A NP_277042.1:n.*327G>A
NM_033508.1:c.*327G>A NP_277043.1:n.*327G>A
NM_000162.4:c.*327G>A NP_000153.1:n.*327G>A
NM_001354800.1:c.1369+356G>A NP_001341729.1:n.1369+356G>A
NM_001354801.1:c.*327G>A NP_001341730.1:n.*327G>A
NM_001354802.1:c.229+356G>A NP_001341731.1:n.229+356G>A
NM_001354803.1:c.*327G>A NP_001341732.1:n.*327G>A
NM_033507.2:c.*327G>A NP_277042.1:n.*327G>A
NM_033508.2:c.*327G>A NP_277043.1:n.*327G>A
XM_024446707.1:c.*327G>A XP_024302475.1:n.*327G>A
NM_000162.5:c.*327G>A MANE Select NP_000153.1:n.*327G>A
NM_033507.3:c.*327G>A NP_277042.1:n.*327G>A
NM_033508.3:c.*327G>A NP_277043.1:n.*327G>A
NM_001354803.2:c.*327G>A NP_001341732.1:n.*327G>A
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