Canonical Allele Identifier: CA367401348

Gene: GCK

Linked Data

• ClinVar Variation Id: 2136522
• ClinVar RCV Id: RCV003037218
• gnomAD v4: 7-44149826-C-A
• MyVariant Identifiers: chr7:g.44189425C>A (hg19) ; chr7:g.44149826C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149826C>A , CM000669.2:g.44149826C>A	GRCh38
NC_000007.13:g.44189425C>A , CM000669.1:g.44189425C>A	GRCh37
NC_000007.12:g.44155950C>A	NCBI36
NG_008847.1:g.44598G>T
NG_008847.2:g.53345G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*611G>T	ENSP00000379142.4:n.*611G>T
ENST00000616242.5:c.613G>T	ENSP00000482149.2:p.Asp205Tyr
ENST00000682635.1:n.1099G>T
ENST00000345378.7:c.616G>T	ENSP00000223366.2:p.Asp206Tyr
ENST00000403799.8:c.613G>T MANE Select	ENSP00000384247.3:p.Asp205Tyr
ENST00000671824.1:c.613G>T	ENSP00000500264.1:p.Asp205Tyr
ENST00000673284.1:c.613G>T	ENSP00000499852.1:p.Asp205Tyr
ENST00000345378.6:c.616G>T	ENSP00000223366.2:p.Asp206Tyr
ENST00000395796.7:c.610G>T	ENSP00000379142.3:p.Asp204Tyr
ENST00000403799.7:c.613G>T	ENSP00000384247.3:p.Asp205Tyr
ENST00000437084.1:c.562G>T	ENSP00000402840.1:p.Asp188Tyr
ENST00000616242.4:c.610G>T	ENSP00000482149.1:p.Asp204Tyr
NM_000162.3:c.613G>T	NP_000153.1:p.Asp205Tyr
NM_033507.1:c.616G>T	NP_277042.1:p.Asp206Tyr
NM_033508.1:c.610G>T	NP_277043.1:p.Asp204Tyr
NM_000162.4:c.613G>T	NP_000153.1:p.Asp205Tyr
NM_001354800.1:c.613G>T	NP_001341729.1:p.Asp205Tyr
NM_033507.2:c.616G>T	NP_277042.1:p.Asp206Tyr
NM_033508.2:c.610G>T	NP_277043.1:p.Asp204Tyr
NM_000162.5:c.613G>T MANE Select	NP_000153.1:p.Asp205Tyr
NM_033507.3:c.616G>T	NP_277042.1:p.Asp206Tyr
NM_033508.3:c.610G>T	NP_277043.1:p.Asp204Tyr