Canonical Allele Identifier: CA213709

Gene: GCK

Linked Data

• ClinVar Variation Id: 36173
• ClinVar RCV Id: RCV000029836
• dbSNP Id: rs193922261
• MyVariant Identifiers: chr7:g.44193001C>G (hg19) ; chr7:g.44153402C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44153402C>G , CM000669.2:g.44153402C>G	GRCh38
NC_000007.13:g.44193001C>G , CM000669.1:g.44193001C>G	GRCh37
NC_000007.12:g.44159526C>G	NCBI36
NG_008847.1:g.41022G>C
NG_008847.2:g.49769G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*105G>C	ENSP00000379142.4:n.*105G>C
ENST00000616242.5:c.107G>C	ENSP00000482149.2:p.Arg36Pro
ENST00000682635.1:n.593G>C
ENST00000345378.7:c.110G>C	ENSP00000223366.2:p.Arg37Pro
ENST00000403799.8:c.107G>C MANE Select	ENSP00000384247.3:p.Arg36Pro
ENST00000671824.1:c.107G>C	ENSP00000500264.1:p.Arg36Pro
ENST00000673284.1:c.107G>C	ENSP00000499852.1:p.Arg36Pro
ENST00000345378.6:c.110G>C	ENSP00000223366.2:p.Arg37Pro
ENST00000395796.7:c.104G>C	ENSP00000379142.3:p.Arg35Pro
ENST00000403799.7:c.107G>C	ENSP00000384247.3:p.Arg36Pro
ENST00000437084.1:c.107G>C	ENSP00000402840.1:p.Arg36Pro
ENST00000476008.1:n.542G>C
ENST00000616242.4:c.104G>C	ENSP00000482149.1:p.Arg35Pro
NM_000162.3:c.107G>C	NP_000153.1:p.Arg36Pro
NM_033507.1:c.110G>C	NP_277042.1:p.Arg37Pro
NM_033508.1:c.104G>C	NP_277043.1:p.Arg35Pro
NM_000162.4:c.107G>C	NP_000153.1:p.Arg36Pro
NM_001354800.1:c.107G>C	NP_001341729.1:p.Arg36Pro
NM_033507.2:c.110G>C	NP_277042.1:p.Arg37Pro
NM_033508.2:c.104G>C	NP_277043.1:p.Arg35Pro
NM_000162.5:c.107G>C MANE Select	NP_000153.1:p.Arg36Pro
NM_033507.3:c.110G>C	NP_277042.1:p.Arg37Pro
NM_033508.3:c.104G>C	NP_277043.1:p.Arg35Pro