Canonical Allele Identifier: CA367397243

Gene: GCK

Linked Data

• MyVariant Identifiers: chr7:g.44184862T>A (hg19) ; chr7:g.44145263T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145263T>A , CM000669.2:g.44145263T>A	GRCh38
NC_000007.13:g.44184862T>A , CM000669.1:g.44184862T>A	GRCh37
NC_000007.12:g.44151387T>A	NCBI36
NG_008847.1:g.49161A>T
NG_008847.2:g.57908A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1269A>T	ENSP00000379142.4:n.*1269A>T
ENST00000616242.5:c.*391A>T	ENSP00000482149.2:n.*391A>T
ENST00000683378.1:n.497A>T
ENST00000336642.9:c.305A>T	ENSP00000338009.5:p.His102Leu
ENST00000345378.7:c.1274A>T	ENSP00000223366.2:p.His425Leu
ENST00000403799.8:c.1271A>T MANE Select	ENSP00000384247.3:p.His424Leu
ENST00000671824.1:c.1334A>T	ENSP00000500264.1:p.His445Leu
ENST00000672743.1:n.283A>T
ENST00000673284.1:c.1271A>T	ENSP00000499852.1:p.His424Leu
ENST00000336642.8:c.323A>T	ENSP00000338009.4:p.His108Leu
ENST00000345378.6:c.1274A>T	ENSP00000223366.2:p.His425Leu
ENST00000395796.7:c.1268A>T	ENSP00000379142.3:p.His423Leu
ENST00000403799.7:c.1271A>T	ENSP00000384247.3:p.His424Leu
ENST00000437084.1:c.1220A>T	ENSP00000402840.1:p.His407Leu
ENST00000459642.1:n.651A>T
ENST00000616242.4:c.1268A>T	ENSP00000482149.1:p.His423Leu
NM_000162.3:c.1271A>T	NP_000153.1:p.His424Leu
NM_033507.1:c.1274A>T	NP_277042.1:p.His425Leu
NM_033508.1:c.1268A>T	NP_277043.1:p.His423Leu
NM_000162.4:c.1271A>T	NP_000153.1:p.His424Leu
NM_001354800.1:c.1271A>T	NP_001341729.1:p.His424Leu
NM_001354801.1:c.260A>T	NP_001341730.1:p.His87Leu
NM_001354802.1:c.131A>T	NP_001341731.1:p.His44Leu
NM_001354803.1:c.305A>T	NP_001341732.1:p.His102Leu
NM_033507.2:c.1274A>T	NP_277042.1:p.His425Leu
NM_033508.2:c.1268A>T	NP_277043.1:p.His423Leu
XM_024446707.1:c.131A>T	XP_024302475.1:p.His44Leu
NM_000162.5:c.1271A>T MANE Select	NP_000153.1:p.His424Leu
NM_033507.3:c.1274A>T	NP_277042.1:p.His425Leu
NM_033508.3:c.1268A>T	NP_277043.1:p.His423Leu
NM_001354803.2:c.305A>T	NP_001341732.1:p.His102Leu