Canonical Allele Identifier: CA2682576128

Gene: GCK

Linked Data

• gnomAD v4: 7-44152249-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44152249C>G , CM000669.2:g.44152249C>G	GRCh38
NC_000007.13:g.44191848C>G , CM000669.1:g.44191848C>G	GRCh37
NC_000007.12:g.44158373C>G	NCBI36
NG_008847.1:g.42175G>C
NG_008847.2:g.50922G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*361+22G>C	ENSP00000379142.4:n.*361+22G>C
ENST00000616242.5:c.363+22G>C	ENSP00000482149.2:n.363+22G>C
ENST00000682635.1:n.849+22G>C
ENST00000345378.7:c.366+22G>C	ENSP00000223366.2:n.366+22G>C
ENST00000403799.8:c.363+22G>C MANE Select	ENSP00000384247.3:n.363+22G>C
ENST00000671824.1:c.363+22G>C	ENSP00000500264.1:n.363+22G>C
ENST00000673284.1:c.363+22G>C	ENSP00000499852.1:n.363+22G>C
ENST00000345378.6:c.366+22G>C	ENSP00000223366.2:n.366+22G>C
ENST00000395796.7:c.360+22G>C	ENSP00000379142.3:n.360+22G>C
ENST00000403799.7:c.363+22G>C	ENSP00000384247.3:n.363+22G>C
ENST00000437084.1:c.363+22G>C	ENSP00000402840.1:n.363+22G>C
ENST00000616242.4:c.360+22G>C	ENSP00000482149.1:n.360+22G>C
NM_000162.3:c.363+22G>C	NP_000153.1:n.363+22G>C
NM_033507.1:c.366+22G>C	NP_277042.1:n.366+22G>C
NM_033508.1:c.360+22G>C	NP_277043.1:n.360+22G>C
NM_000162.4:c.363+22G>C	NP_000153.1:n.363+22G>C
NM_001354800.1:c.363+22G>C	NP_001341729.1:n.363+22G>C
NM_033507.2:c.366+22G>C	NP_277042.1:n.366+22G>C
NM_033508.2:c.360+22G>C	NP_277043.1:n.360+22G>C
NM_000162.5:c.363+22G>C MANE Select	NP_000153.1:n.363+22G>C
NM_033507.3:c.366+22G>C	NP_277042.1:n.366+22G>C
NM_033508.3:c.360+22G>C	NP_277043.1:n.360+22G>C