Canonical Allele Identifier: CA213796

Gene: GCK

Linked Data

• ClinVar Variation Id: 36226
• ClinVar RCV Id: RCV000029889 ; RCV002463598
• dbSNP Id: rs193922304
• MyVariant Identifiers: chr7:g.44189620G>C (hg19) ; chr7:g.44150021G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44150021G>C , CM000669.2:g.44150021G>C	GRCh38
NC_000007.13:g.44189620G>C , CM000669.1:g.44189620G>C	GRCh37
NC_000007.12:g.44156145G>C	NCBI36
NG_008847.1:g.44403C>G
NG_008847.2:g.53150C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*525C>G	ENSP00000379142.4:n.*525C>G
ENST00000616242.5:c.527C>G	ENSP00000482149.2:p.Ala176Gly
ENST00000682635.1:n.1013C>G
ENST00000345378.7:c.530C>G	ENSP00000223366.2:p.Ala177Gly
ENST00000403799.8:c.527C>G MANE Select	ENSP00000384247.3:p.Ala176Gly
ENST00000671824.1:c.527C>G	ENSP00000500264.1:p.Ala176Gly
ENST00000673284.1:c.527C>G	ENSP00000499852.1:p.Ala176Gly
ENST00000345378.6:c.530C>G	ENSP00000223366.2:p.Ala177Gly
ENST00000395796.7:c.524C>G	ENSP00000379142.3:p.Ala175Gly
ENST00000403799.7:c.527C>G	ENSP00000384247.3:p.Ala176Gly
ENST00000437084.1:c.476C>G	ENSP00000402840.1:p.Ala159Gly
ENST00000616242.4:c.524C>G	ENSP00000482149.1:p.Ala175Gly
NM_000162.3:c.527C>G	NP_000153.1:p.Ala176Gly
NM_033507.1:c.530C>G	NP_277042.1:p.Ala177Gly
NM_033508.1:c.524C>G	NP_277043.1:p.Ala175Gly
NM_000162.4:c.527C>G	NP_000153.1:p.Ala176Gly
NM_001354800.1:c.527C>G	NP_001341729.1:p.Ala176Gly
NM_033507.2:c.530C>G	NP_277042.1:p.Ala177Gly
NM_033508.2:c.524C>G	NP_277043.1:p.Ala175Gly
NM_000162.5:c.527C>G MANE Select	NP_000153.1:p.Ala176Gly
NM_033507.3:c.530C>G	NP_277042.1:p.Ala177Gly
NM_033508.3:c.524C>G	NP_277043.1:p.Ala175Gly