Canonical Allele Identifier: CA213842

Gene: GCK

Linked Data

• ClinVar Variation Id: 36252
• ClinVar RCV Id: RCV002472937
• dbSNP Id: rs193921400
• MyVariant Identifiers: chr7:g.44187354A>G (hg19) ; chr7:g.44147755A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147755A>G , CM000669.2:g.44147755A>G	GRCh38
NC_000007.13:g.44187354A>G , CM000669.1:g.44187354A>G	GRCh37
NC_000007.12:g.44153879A>G	NCBI36
NG_008847.1:g.46669T>C
NG_008847.2:g.55416T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*756T>C	ENSP00000379142.4:n.*756T>C
ENST00000616242.5:c.758T>C	ENSP00000482149.2:p.Val253Ala
ENST00000345378.7:c.761T>C	ENSP00000223366.2:p.Val254Ala
ENST00000403799.8:c.758T>C MANE Select	ENSP00000384247.3:p.Val253Ala
ENST00000671824.1:c.758T>C	ENSP00000500264.1:p.Val253Ala
ENST00000673284.1:c.758T>C	ENSP00000499852.1:p.Val253Ala
ENST00000345378.6:c.761T>C	ENSP00000223366.2:p.Val254Ala
ENST00000395796.7:c.755T>C	ENSP00000379142.3:p.Val252Ala
ENST00000403799.7:c.758T>C	ENSP00000384247.3:p.Val253Ala
ENST00000437084.1:c.707T>C	ENSP00000402840.1:p.Val236Ala
ENST00000616242.4:c.755T>C	ENSP00000482149.1:p.Val252Ala
NM_000162.3:c.758T>C	NP_000153.1:p.Val253Ala
NM_033507.1:c.761T>C	NP_277042.1:p.Val254Ala
NM_033508.1:c.755T>C	NP_277043.1:p.Val252Ala
XR_927223.1:n.82+7A>G
NM_000162.4:c.758T>C	NP_000153.1:p.Val253Ala
NM_001354800.1:c.758T>C	NP_001341729.1:p.Val253Ala
NM_033507.2:c.761T>C	NP_277042.1:p.Val254Ala
NM_033508.2:c.755T>C	NP_277043.1:p.Val252Ala
XR_927223.2:n.82+7A>G
NM_000162.5:c.758T>C MANE Select	NP_000153.1:p.Val253Ala
NM_033507.3:c.761T>C	NP_277042.1:p.Val254Ala
NM_033508.3:c.755T>C	NP_277043.1:p.Val252Ala