Canonical Allele Identifier: CA899353397
Gene: PCCB HGNC NCBI

Linked Data

dbSNP Id: rs1393133127

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136262367A>G , CM000665.2:g.136262367A>G GRCh38
NC_000003.11:g.135981209A>G , CM000665.1:g.135981209A>G GRCh37
NC_000003.10:g.137463899A>G NCBI36
NG_008939.1:g.17043A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251654.9:c.543+302A>G MANE Select ENSP00000251654.4:n.543+302A>G
ENST00000251654.8:c.543+302A>G ENSP00000251654.4:n.543+302A>G
ENST00000459873.1:c.294+302A>G ENSP00000419293.1:n.294+302A>G
ENST00000462542.5:c.410+302A>G
ENST00000462637.5:c.474+302A>G ENSP00000420391.1:n.474+302A>G
ENST00000465176.5:n.505+302A>G
ENST00000466072.5:c.543+302A>G ENSP00000420158.1:n.543+302A>G
ENST00000468777.5:c.636+302A>G ENSP00000419129.1:n.636+302A>G
ENST00000469217.5:c.603+302A>G ENSP00000419027.1:n.603+302A>G
ENST00000471595.5:c.543+302A>G ENSP00000417549.1:n.543+302A>G
ENST00000473073.1:n.500+302A>G
ENST00000474833.5:n.168+11809A>G
ENST00000475214.5:n.457+302A>G
ENST00000478469.5:c.543+302A>G ENSP00000420759.1:n.543+302A>G
ENST00000482086.5:c.195+302A>G ENSP00000417253.1:n.195+302A>G
ENST00000483687.5:c.486+302A>G ENSP00000420639.1:n.486+302A>G
ENST00000484181.5:c.543+302A>G ENSP00000417937.1:n.543+302A>G
ENST00000490504.5:c.372+5744A>G ENSP00000418307.1:n.372+5744A>G
NM_000532.4:c.543+302A>G NP_000523.2:n.543+302A>G
NM_001178014.1:c.603+302A>G NP_001171485.1:n.603+302A>G
XM_011512873.1:c.543+302A>G XP_011511175.1:n.543+302A>G
XM_011512873.2:c.543+302A>G XP_011511175.1:n.543+302A>G
NM_000532.5:c.543+302A>G MANE Select NP_000523.2:n.543+302A>G
NM_001178014.2:c.603+302A>G NP_001171485.1:n.603+302A>G