Canonical Allele Identifier: CA11511715
Gene: PCCB HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.136255374G>A
GRCh37 chr3:g.135974216G>A
gnomAD v2:
3:135974216 G / A
gnomAD v3:
3:136255374 G / A
gnomAD v4:
chr3-136255374-G-A
Joint Max Group AF 0.23132983 (SAS)
Genomes Max Group AF 0.2363099 (NFE)
Exomes Max Group AF 0.23546302 (SAS)
dbSNP:
9844666
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136255374G>A , CM000665.2:g.136255374G>A GRCh38
NC_000003.11:g.135974216G>A , CM000665.1:g.135974216G>A GRCh37
NC_000003.10:g.137456906G>A NCBI36
NG_008939.1:g.10050G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251654.9:c.184-482G>A MANE Select ENSP00000251654.4:n.184-482G>A
ENST00000251654.8:c.184-482G>A ENSP00000251654.4:n.184-482G>A
ENST00000459873.1:c.-77G>A ENSP00000419293.1:n.-77G>A
ENST00000462542.5:c.51-482G>A
ENST00000462637.5:c.184-482G>A ENSP00000420391.1:n.184-482G>A
ENST00000465423.5:c.271-482G>A ENSP00000419263.1:n.271-482G>A
ENST00000466072.5:c.184-482G>A ENSP00000420158.1:n.184-482G>A
ENST00000468777.5:c.184-482G>A ENSP00000419129.1:n.184-482G>A
ENST00000469217.5:c.184-482G>A ENSP00000419027.1:n.184-482G>A
ENST00000471595.5:c.184-482G>A ENSP00000417549.1:n.184-482G>A
ENST00000474833.5:n.168+4816G>A
ENST00000475214.5:n.54G>A
ENST00000478469.5:c.184-482G>A ENSP00000420759.1:n.184-482G>A
ENST00000482086.5:c.93+4906G>A ENSP00000417253.1:n.93+4906G>A
ENST00000483687.5:c.184-482G>A ENSP00000420639.1:n.184-482G>A
ENST00000484181.5:c.184-482G>A ENSP00000417937.1:n.184-482G>A
ENST00000490504.5:c.184-482G>A ENSP00000418307.1:n.184-482G>A
ENST00000494742.5:c.-226G>A ENSP00000418020.1:n.-226G>A
NM_000532.4:c.184-482G>A NP_000523.2:n.184-482G>A
NM_001178014.1:c.184-482G>A NP_001171485.1:n.184-482G>A
XM_011512873.1:c.184-482G>A XP_011511175.1:n.184-482G>A
XM_011512873.2:c.184-482G>A XP_011511175.1:n.184-482G>A
NM_000532.5:c.184-482G>A MANE Select NP_000523.2:n.184-482G>A
NM_001178014.2:c.184-482G>A NP_001171485.1:n.184-482G>A
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