Canonical Allele Identifier: CA2682574000

Gene: GCK

Linked Data

• gnomAD v4: 7-44149929-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149929C>G , CM000669.2:g.44149929C>G	GRCh38
NC_000007.13:g.44189528C>G , CM000669.1:g.44189528C>G	GRCh37
NC_000007.12:g.44156053C>G	NCBI36
NG_008847.1:g.44495G>C
NG_008847.2:g.53242G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*577+40G>C	ENSP00000379142.4:n.*577+40G>C
ENST00000616242.5:c.579+40G>C	ENSP00000482149.2:n.579+40G>C
ENST00000682635.1:n.1065+40G>C
ENST00000345378.7:c.582+40G>C	ENSP00000223366.2:n.582+40G>C
ENST00000403799.8:c.579+40G>C MANE Select	ENSP00000384247.3:n.579+40G>C
ENST00000671824.1:c.579+40G>C	ENSP00000500264.1:n.579+40G>C
ENST00000673284.1:c.579+40G>C	ENSP00000499852.1:n.579+40G>C
ENST00000345378.6:c.582+40G>C	ENSP00000223366.2:n.582+40G>C
ENST00000395796.7:c.576+40G>C	ENSP00000379142.3:n.576+40G>C
ENST00000403799.7:c.579+40G>C	ENSP00000384247.3:n.579+40G>C
ENST00000437084.1:c.528+40G>C	ENSP00000402840.1:n.528+40G>C
ENST00000616242.4:c.576+40G>C	ENSP00000482149.1:n.576+40G>C
NM_000162.3:c.579+40G>C	NP_000153.1:n.579+40G>C
NM_033507.1:c.582+40G>C	NP_277042.1:n.582+40G>C
NM_033508.1:c.576+40G>C	NP_277043.1:n.576+40G>C
NM_000162.4:c.579+40G>C	NP_000153.1:n.579+40G>C
NM_001354800.1:c.579+40G>C	NP_001341729.1:n.579+40G>C
NM_033507.2:c.582+40G>C	NP_277042.1:n.582+40G>C
NM_033508.2:c.576+40G>C	NP_277043.1:n.576+40G>C
NM_000162.5:c.579+40G>C MANE Select	NP_000153.1:n.579+40G>C
NM_033507.3:c.582+40G>C	NP_277042.1:n.582+40G>C
NM_033508.3:c.576+40G>C	NP_277043.1:n.576+40G>C