Canonical Allele Identifier: CA435957477
Gene: PCCB HGNC NCBI

Linked Data

dbSNP Id: rs2108146753
MyVariant Identifiers: chr3:g.135980868A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136262026A>G , CM000665.2:g.136262026A>G GRCh38
NC_000003.11:g.135980868A>G , CM000665.1:g.135980868A>G GRCh37
NC_000003.10:g.137463558A>G NCBI36
NG_008939.1:g.16702A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251654.9:c.504A>G MANE Select ENSP00000251654.4:p.Glu168=
ENST00000251654.8:c.504A>G ENSP00000251654.4:p.Glu168=
ENST00000459873.1:c.255A>G ENSP00000419293.1:p.Glu85=
ENST00000462542.5:c.371A>G
ENST00000462637.5:c.435A>G ENSP00000420391.1:p.Glu145=
ENST00000465176.5:n.466A>G
ENST00000466072.5:c.504A>G ENSP00000420158.1:p.Glu168=
ENST00000468777.5:c.597A>G ENSP00000419129.1:p.Glu199=
ENST00000469217.5:c.564A>G ENSP00000419027.1:p.Glu188=
ENST00000471595.5:c.504A>G ENSP00000417549.1:p.Glu168=
ENST00000473073.1:n.461A>G
ENST00000474833.5:n.168+11468A>G
ENST00000475214.5:n.418A>G
ENST00000478469.5:c.504A>G ENSP00000420759.1:p.Glu168=
ENST00000482086.5:c.156A>G ENSP00000417253.1:p.Glu52=
ENST00000483687.5:c.447A>G ENSP00000420639.1:p.Glu149=
ENST00000484181.5:c.504A>G ENSP00000417937.1:p.Glu168=
ENST00000490504.5:c.372+5403A>G ENSP00000418307.1:n.372+5403A>G
NM_000532.4:c.504A>G NP_000523.2:p.Glu168=
NM_001178014.1:c.564A>G NP_001171485.1:p.Glu188=
XM_011512873.1:c.504A>G XP_011511175.1:p.Glu168=
XM_011512873.2:c.504A>G XP_011511175.1:p.Glu168=
NM_000532.5:c.504A>G MANE Select NP_000523.2:p.Glu168=
NM_001178014.2:c.564A>G NP_001171485.1:p.Glu188=