Canonical Allele Identifier: CA354739890
Gene: PCCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136262025A>G , CM000665.2:g.136262025A>G GRCh38
NC_000003.11:g.135980867A>G , CM000665.1:g.135980867A>G GRCh37
NC_000003.10:g.137463557A>G NCBI36
NG_008939.1:g.16701A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251654.9:c.503A>G MANE Select ENSP00000251654.4:p.Glu168Gly
ENST00000251654.8:c.503A>G ENSP00000251654.4:p.Glu168Gly
ENST00000459873.1:c.254A>G ENSP00000419293.1:p.Glu85Gly
ENST00000462542.5:c.370A>G
ENST00000462637.5:c.434A>G ENSP00000420391.1:p.Glu145Gly
ENST00000465176.5:n.465A>G
ENST00000466072.5:c.503A>G ENSP00000420158.1:p.Glu168Gly
ENST00000468777.5:c.596A>G ENSP00000419129.1:p.Glu199Gly
ENST00000469217.5:c.563A>G ENSP00000419027.1:p.Glu188Gly
ENST00000471595.5:c.503A>G ENSP00000417549.1:p.Glu168Gly
ENST00000473073.1:n.460A>G
ENST00000474833.5:n.168+11467A>G
ENST00000475214.5:n.417A>G
ENST00000478469.5:c.503A>G ENSP00000420759.1:p.Glu168Gly
ENST00000482086.5:c.155A>G ENSP00000417253.1:p.Glu52Gly
ENST00000483687.5:c.446A>G ENSP00000420639.1:p.Glu149Gly
ENST00000484181.5:c.503A>G ENSP00000417937.1:p.Glu168Gly
ENST00000490504.5:c.372+5402A>G ENSP00000418307.1:n.372+5402A>G
ENST00000494742.5:c.254A>G
NM_000532.4:c.503A>G NP_000523.2:p.Glu168Gly
NM_001178014.1:c.563A>G NP_001171485.1:p.Glu188Gly
XM_011512873.1:c.503A>G XP_011511175.1:p.Glu168Gly
XM_011512873.2:c.503A>G XP_011511175.1:p.Glu168Gly
NM_000532.5:c.503A>G MANE Select NP_000523.2:p.Glu168Gly
NM_001178014.2:c.563A>G NP_001171485.1:p.Glu188Gly