Canonical Allele Identifier: CA1703634929
Community Standard Title: NM_000162.5(GCK):c.752T= (p.Met251=)
Gene: GCK HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000162.5:c.752T= MANE Select NP_000153.1:p.Met251=
ENST00000403799.8:c.752T= MANE Select ENSP00000384247.3:p.Met251=
NM_000162.3:c.752T= NP_000153.1:p.Met251=
NM_000162.4:c.752T= NP_000153.1:p.Met251=
NM_001354800.1:c.752T= NP_001341729.1:p.Met251=
NM_033507.1:c.755T= NP_277042.1:p.Met252=
NM_033507.2:c.755T= NP_277042.1:p.Met252=
NM_033507.3:c.755T= NP_277042.1:p.Met252=
NM_033508.1:c.749T= NP_277043.1:p.Met250=
NM_033508.2:c.749T= NP_277043.1:p.Met250=
NM_033508.3:c.749T= NP_277043.1:p.Met250=
ENST00000345378.6:c.755T= ENSP00000223366.2:p.Met252=
ENST00000345378.7:c.755T= ENSP00000223366.2:p.Met252=
ENST00000395796.7:c.749T= ENSP00000379142.3:p.Met250=
ENST00000395796.8:c.*750T= ENSP00000379142.4:n.*750T=
ENST00000403799.7:c.752T= ENSP00000384247.3:p.Met251=
ENST00000437084.1:c.701T= ENSP00000402840.1:p.Met234=
ENST00000616242.4:c.749T= ENSP00000482149.1:p.Met250=
ENST00000616242.5:c.752T= ENSP00000482149.2:p.Met251=
ENST00000671824.1:c.752T= ENSP00000500264.1:p.Met251=
ENST00000673284.1:c.752T= ENSP00000499852.1:p.Met251=
XR_927223.1:n.82+13A=
XR_927223.2:n.82+13A=