Canonical Allele Identifier: CA1404288025

Gene: PCCB

Linked Data

• dbSNP Id: rs1576407468
• gnomAD v4: 3-136262173-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262173G>A , CM000665.2:g.136262173G>A	GRCh38
NC_000003.11:g.135981015G>A , CM000665.1:g.135981015G>A	GRCh37
NC_000003.10:g.137463705G>A	NCBI36
NG_008939.1:g.16849G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.543+108G>A MANE Select	ENSP00000251654.4:n.543+108G>A
ENST00000251654.8:c.543+108G>A	ENSP00000251654.4:n.543+108G>A
ENST00000459873.1:c.294+108G>A	ENSP00000419293.1:n.294+108G>A
ENST00000462542.5:c.410+108G>A
ENST00000462637.5:c.474+108G>A	ENSP00000420391.1:n.474+108G>A
ENST00000465176.5:n.505+108G>A
ENST00000466072.5:c.543+108G>A	ENSP00000420158.1:n.543+108G>A
ENST00000468777.5:c.636+108G>A	ENSP00000419129.1:n.636+108G>A
ENST00000469217.5:c.603+108G>A	ENSP00000419027.1:n.603+108G>A
ENST00000471595.5:c.543+108G>A	ENSP00000417549.1:n.543+108G>A
ENST00000473073.1:n.500+108G>A
ENST00000474833.5:n.168+11615G>A
ENST00000475214.5:n.457+108G>A
ENST00000478469.5:c.543+108G>A	ENSP00000420759.1:n.543+108G>A
ENST00000482086.5:c.195+108G>A	ENSP00000417253.1:n.195+108G>A
ENST00000483687.5:c.486+108G>A	ENSP00000420639.1:n.486+108G>A
ENST00000484181.5:c.543+108G>A	ENSP00000417937.1:n.543+108G>A
ENST00000490504.5:c.372+5550G>A	ENSP00000418307.1:n.372+5550G>A
NM_000532.4:c.543+108G>A	NP_000523.2:n.543+108G>A
NM_001178014.1:c.603+108G>A	NP_001171485.1:n.603+108G>A
XM_011512873.1:c.543+108G>A	XP_011511175.1:n.543+108G>A
XM_011512873.2:c.543+108G>A	XP_011511175.1:n.543+108G>A
NM_000532.5:c.543+108G>A MANE Select	NP_000523.2:n.543+108G>A
NM_001178014.2:c.603+108G>A	NP_001171485.1:n.603+108G>A