Canonical Allele Identifier: CA367397219

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184857T>A (hg19) ; chr7:g.44145258T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145258T>A , CM000669.2:g.44145258T>A	GRCh38
NC_000007.13:g.44184857T>A , CM000669.1:g.44184857T>A	GRCh37
NC_000007.12:g.44151382T>A	NCBI36
NG_008847.1:g.49166A>T
NG_008847.2:g.57913A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1274A>T	ENSP00000379142.4:n.*1274A>T
ENST00000616242.5:c.*396A>T	ENSP00000482149.2:n.*396A>T
ENST00000683378.1:n.502A>T
ENST00000336642.9:c.310A>T	ENSP00000338009.5:p.Ser104Cys
ENST00000345378.7:c.1279A>T	ENSP00000223366.2:p.Ser427Cys
ENST00000403799.8:c.1276A>T MANE Select	ENSP00000384247.3:p.Ser426Cys
ENST00000671824.1:c.1339A>T	ENSP00000500264.1:p.Ser447Cys
ENST00000672743.1:n.288A>T
ENST00000673284.1:c.1276A>T	ENSP00000499852.1:p.Ser426Cys
ENST00000336642.8:c.328A>T	ENSP00000338009.4:p.Ser110Cys
ENST00000345378.6:c.1279A>T	ENSP00000223366.2:p.Ser427Cys
ENST00000395796.7:c.1273A>T	ENSP00000379142.3:p.Ser425Cys
ENST00000403799.7:c.1276A>T	ENSP00000384247.3:p.Ser426Cys
ENST00000437084.1:c.1225A>T	ENSP00000402840.1:p.Ser409Cys
ENST00000459642.1:n.656A>T
ENST00000616242.4:c.1273A>T	ENSP00000482149.1:p.Ser425Cys
NM_000162.3:c.1276A>T	NP_000153.1:p.Ser426Cys
NM_033507.1:c.1279A>T	NP_277042.1:p.Ser427Cys
NM_033508.1:c.1273A>T	NP_277043.1:p.Ser425Cys
NM_000162.4:c.1276A>T	NP_000153.1:p.Ser426Cys
NM_001354800.1:c.1276A>T	NP_001341729.1:p.Ser426Cys
NM_001354801.1:c.265A>T	NP_001341730.1:p.Ser89Cys
NM_001354802.1:c.136A>T	NP_001341731.1:p.Ser46Cys
NM_001354803.1:c.310A>T	NP_001341732.1:p.Ser104Cys
NM_033507.2:c.1279A>T	NP_277042.1:p.Ser427Cys
NM_033508.2:c.1273A>T	NP_277043.1:p.Ser425Cys
XM_024446707.1:c.136A>T	XP_024302475.1:p.Ser46Cys
NM_000162.5:c.1276A>T MANE Select	NP_000153.1:p.Ser426Cys
NM_033507.3:c.1279A>T	NP_277042.1:p.Ser427Cys
NM_033508.3:c.1273A>T	NP_277043.1:p.Ser425Cys
NM_001354803.2:c.310A>T	NP_001341732.1:p.Ser104Cys