Canonical Allele Identifier: CA213812

Gene: GCK

Linked Data

• ClinVar Variation Id: 36234
• ClinVar RCV Id: RCV000029897 ; RCV002463603 ; RCV002513252
• dbSNP Id: rs193922312
• MyVariant Identifiers: chr7:g.44189423G>C (hg19) ; chr7:g.44149824G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149824G>C , CM000669.2:g.44149824G>C	GRCh38
NC_000007.13:g.44189423G>C , CM000669.1:g.44189423G>C	GRCh37
NC_000007.12:g.44155948G>C	NCBI36
NG_008847.1:g.44600C>G
NG_008847.2:g.53347C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*613C>G	ENSP00000379142.4:n.*613C>G
ENST00000616242.5:c.615C>G	ENSP00000482149.2:p.Asp205Glu
ENST00000682635.1:n.1101C>G
ENST00000345378.7:c.618C>G	ENSP00000223366.2:p.Asp206Glu
ENST00000403799.8:c.615C>G MANE Select	ENSP00000384247.3:p.Asp205Glu
ENST00000671824.1:c.615C>G	ENSP00000500264.1:p.Asp205Glu
ENST00000673284.1:c.615C>G	ENSP00000499852.1:p.Asp205Glu
ENST00000345378.6:c.618C>G	ENSP00000223366.2:p.Asp206Glu
ENST00000395796.7:c.612C>G	ENSP00000379142.3:p.Asp204Glu
ENST00000403799.7:c.615C>G	ENSP00000384247.3:p.Asp205Glu
ENST00000437084.1:c.564C>G	ENSP00000402840.1:p.Asp188Glu
ENST00000616242.4:c.612C>G	ENSP00000482149.1:p.Asp204Glu
NM_000162.3:c.615C>G	NP_000153.1:p.Asp205Glu
NM_033507.1:c.618C>G	NP_277042.1:p.Asp206Glu
NM_033508.1:c.612C>G	NP_277043.1:p.Asp204Glu
NM_000162.4:c.615C>G	NP_000153.1:p.Asp205Glu
NM_001354800.1:c.615C>G	NP_001341729.1:p.Asp205Glu
NM_033507.2:c.618C>G	NP_277042.1:p.Asp206Glu
NM_033508.2:c.612C>G	NP_277043.1:p.Asp204Glu
NM_000162.5:c.615C>G MANE Select	NP_000153.1:p.Asp205Glu
NM_033507.3:c.618C>G	NP_277042.1:p.Asp206Glu
NM_033508.3:c.612C>G	NP_277043.1:p.Asp204Glu