Canonical Allele Identifier: CA435957434

Gene: PCCB

Linked Data

• ClinVar Variation Id: 1149839
• ClinVar RCV Id: RCV001490233
• dbSNP Id: rs2108146658
• gnomAD v4: 3-136261981-T-A
• MyVariant Identifiers: chr3:g.135980823T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261981T>A , CM000665.2:g.136261981T>A	GRCh38
NC_000003.11:g.135980823T>A , CM000665.1:g.135980823T>A	GRCh37
NC_000003.10:g.137463513T>A	NCBI36
NG_008939.1:g.16657T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.459T>A MANE Select	ENSP00000251654.4:p.Ala153=
ENST00000251654.8:c.459T>A	ENSP00000251654.4:p.Ala153=
ENST00000459873.1:c.210T>A	ENSP00000419293.1:p.Ala70=
ENST00000462542.5:c.326T>A
ENST00000462637.5:c.390T>A	ENSP00000420391.1:p.Ala130=
ENST00000465176.5:n.421T>A
ENST00000465423.5:c.546T>A	ENSP00000419263.1:p.Ala182=
ENST00000466072.5:c.459T>A	ENSP00000420158.1:p.Ala153=
ENST00000468777.5:c.552T>A	ENSP00000419129.1:p.Ala184=
ENST00000469217.5:c.519T>A	ENSP00000419027.1:p.Ala173=
ENST00000471595.5:c.459T>A	ENSP00000417549.1:p.Ala153=
ENST00000473073.1:n.416T>A
ENST00000474833.5:n.168+11423T>A
ENST00000475214.5:n.373T>A
ENST00000478469.5:c.459T>A	ENSP00000420759.1:p.Ala153=
ENST00000482086.5:c.111T>A	ENSP00000417253.1:p.Ala37=
ENST00000483687.5:c.402T>A	ENSP00000420639.1:p.Ala134=
ENST00000484181.5:c.459T>A	ENSP00000417937.1:p.Ala153=
ENST00000490504.5:c.372+5358T>A	ENSP00000418307.1:n.372+5358T>A
ENST00000494742.5:c.210T>A	ENSP00000418020.1:p.Ala70=
NM_000532.4:c.459T>A	NP_000523.2:p.Ala153=
NM_001178014.1:c.519T>A	NP_001171485.1:p.Ala173=
XM_011512873.1:c.459T>A	XP_011511175.1:p.Ala153=
XM_011512873.2:c.459T>A	XP_011511175.1:p.Ala153=
NM_000532.5:c.459T>A MANE Select	NP_000523.2:p.Ala153=
NM_001178014.2:c.519T>A	NP_001171485.1:p.Ala173=