Canonical Allele Identifier: CA213840

Gene: GCK

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147761A>G , CM000669.2:g.44147761A>G	GRCh38
NC_000007.13:g.44187360A>G , CM000669.1:g.44187360A>G	GRCh37
NC_000007.12:g.44153885A>G	NCBI36
NG_008847.1:g.46663T>C
NG_008847.2:g.55410T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000162.5:c.752T>C MANE Select	NP_000153.1:p.Met251Thr
ENST00000403799.8:c.752T>C MANE Select	ENSP00000384247.3:p.Met251Thr
NM_000162.3:c.752T>C	NP_000153.1:p.Met251Thr
NM_000162.4:c.752T>C	NP_000153.1:p.Met251Thr
NM_001354800.1:c.752T>C	NP_001341729.1:p.Met251Thr
NM_033507.1:c.755T>C	NP_277042.1:p.Met252Thr
NM_033507.2:c.755T>C	NP_277042.1:p.Met252Thr
NM_033507.3:c.755T>C	NP_277042.1:p.Met252Thr
NM_033508.1:c.749T>C	NP_277043.1:p.Met250Thr
NM_033508.2:c.749T>C	NP_277043.1:p.Met250Thr
NM_033508.3:c.749T>C	NP_277043.1:p.Met250Thr
ENST00000345378.6:c.755T>C	ENSP00000223366.2:p.Met252Thr
ENST00000345378.7:c.755T>C	ENSP00000223366.2:p.Met252Thr
ENST00000395796.7:c.749T>C	ENSP00000379142.3:p.Met250Thr
ENST00000395796.8:c.*750T>C	ENSP00000379142.4:n.*750T>C
ENST00000403799.7:c.752T>C	ENSP00000384247.3:p.Met251Thr
ENST00000437084.1:c.701T>C	ENSP00000402840.1:p.Met234Thr
ENST00000616242.4:c.749T>C	ENSP00000482149.1:p.Met250Thr
ENST00000616242.5:c.752T>C	ENSP00000482149.2:p.Met251Thr
ENST00000671824.1:c.752T>C	ENSP00000500264.1:p.Met251Thr
ENST00000673284.1:c.752T>C	ENSP00000499852.1:p.Met251Thr
XR_927223.1:n.82+13A>G
XR_927223.2:n.82+13A>G