Canonical Allele Identifier: CA354739946

Gene: PCCB

Linked Data

• gnomAD v4: 3-136262043-C-A
• MyVariant Identifiers: chr3:g.135980885C>A (hg19) ; chr3:g.136262043C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262043C>A , CM000665.2:g.136262043C>A	GRCh38
NC_000003.11:g.135980885C>A , CM000665.1:g.135980885C>A	GRCh37
NC_000003.10:g.137463575C>A	NCBI36
NG_008939.1:g.16719C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.521C>A MANE Select	ENSP00000251654.4:p.Ala174Asp
ENST00000251654.8:c.521C>A	ENSP00000251654.4:p.Ala174Asp
ENST00000459873.1:c.272C>A	ENSP00000419293.1:p.Ala91Asp
ENST00000462542.5:c.388C>A
ENST00000462637.5:c.452C>A	ENSP00000420391.1:p.Ala151Asp
ENST00000465176.5:n.483C>A
ENST00000466072.5:c.521C>A	ENSP00000420158.1:p.Ala174Asp
ENST00000468777.5:c.614C>A	ENSP00000419129.1:p.Ala205Asp
ENST00000469217.5:c.581C>A	ENSP00000419027.1:p.Ala194Asp
ENST00000471595.5:c.521C>A	ENSP00000417549.1:p.Ala174Asp
ENST00000473073.1:n.478C>A
ENST00000474833.5:n.168+11485C>A
ENST00000475214.5:n.435C>A
ENST00000478469.5:c.521C>A	ENSP00000420759.1:p.Ala174Asp
ENST00000482086.5:c.173C>A	ENSP00000417253.1:p.Ala58Asp
ENST00000483687.5:c.464C>A	ENSP00000420639.1:p.Ala155Asp
ENST00000484181.5:c.521C>A	ENSP00000417937.1:p.Ala174Asp
ENST00000490504.5:c.372+5420C>A	ENSP00000418307.1:n.372+5420C>A
NM_000532.4:c.521C>A	NP_000523.2:p.Ala174Asp
NM_001178014.1:c.581C>A	NP_001171485.1:p.Ala194Asp
XM_011512873.1:c.521C>A	XP_011511175.1:p.Ala174Asp
XM_011512873.2:c.521C>A	XP_011511175.1:p.Ala174Asp
NM_000532.5:c.521C>A MANE Select	NP_000523.2:p.Ala174Asp
NM_001178014.2:c.581C>A	NP_001171485.1:p.Ala194Asp