Canonical Allele Identifier: CA367398280
Community Standard Title: NM_000162.5(GCK):c.1235T>G (p.Val412Gly)
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145515A>C , CM000669.2:g.44145515A>C GRCh38
NC_000007.13:g.44185114A>C , CM000669.1:g.44185114A>C GRCh37
NC_000007.12:g.44151639A>C NCBI36
NG_008847.1:g.48909T>G
NG_008847.2:g.57656T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000162.5:c.1235T>G MANE Select NP_000153.1:p.Val412Gly
ENST00000403799.8:c.1235T>G MANE Select ENSP00000384247.3:p.Val412Gly
NM_000162.3:c.1235T>G NP_000153.1:p.Val412Gly
NM_000162.4:c.1235T>G NP_000153.1:p.Val412Gly
NM_001354800.1:c.1235T>G NP_001341729.1:p.Val412Gly
NM_001354801.1:c.224T>G NP_001341730.1:p.Val75Gly
NM_001354802.1:c.95T>G NP_001341731.1:p.Val32Gly
NM_001354803.1:c.269T>G NP_001341732.1:p.Val90Gly
NM_001354803.2:c.269T>G NP_001341732.1:p.Val90Gly
NM_033507.1:c.1238T>G NP_277042.1:p.Val413Gly
NM_033507.2:c.1238T>G NP_277042.1:p.Val413Gly
NM_033507.3:c.1238T>G NP_277042.1:p.Val413Gly
NM_033508.1:c.1232T>G NP_277043.1:p.Val411Gly
NM_033508.2:c.1232T>G NP_277043.1:p.Val411Gly
NM_033508.3:c.1232T>G NP_277043.1:p.Val411Gly
ENST00000336642.8:c.287T>G ENSP00000338009.4:p.Val96Gly
ENST00000336642.9:c.269T>G ENSP00000338009.5:p.Val90Gly
ENST00000345378.6:c.1238T>G ENSP00000223366.2:p.Val413Gly
ENST00000345378.7:c.1238T>G ENSP00000223366.2:p.Val413Gly
ENST00000395796.7:c.1232T>G ENSP00000379142.3:p.Val411Gly
ENST00000395796.8:c.*1233T>G ENSP00000379142.4:n.*1233T>G
ENST00000403799.7:c.1235T>G ENSP00000384247.3:p.Val412Gly
ENST00000437084.1:c.1184T>G ENSP00000402840.1:p.Val395Gly
ENST00000459642.1:n.615T>G
ENST00000616242.4:c.1232T>G ENSP00000482149.1:p.Val411Gly
ENST00000616242.5:c.*355T>G ENSP00000482149.2:n.*355T>G
ENST00000671824.1:c.1298T>G ENSP00000500264.1:p.Val433Gly
ENST00000672743.1:n.247T>G
ENST00000673284.1:c.1235T>G ENSP00000499852.1:p.Val412Gly
ENST00000683378.1:n.461T>G
XM_024446707.1:c.95T>G XP_024302475.1:p.Val32Gly