Canonical Allele Identifier: CA435957456

Gene: PCCB

Linked Data

• gnomAD v4: 3-136262005-T-A
• MyVariant Identifiers: chr3:g.135980847T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262005T>A , CM000665.2:g.136262005T>A	GRCh38
NC_000003.11:g.135980847T>A , CM000665.1:g.135980847T>A	GRCh37
NC_000003.10:g.137463537T>A	NCBI36
NG_008939.1:g.16681T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.483T>A MANE Select	ENSP00000251654.4:p.Ser161=
ENST00000251654.8:c.483T>A	ENSP00000251654.4:p.Ser161=
ENST00000459873.1:c.234T>A	ENSP00000419293.1:p.Ser78=
ENST00000462542.5:c.350T>A
ENST00000462637.5:c.414T>A	ENSP00000420391.1:p.Ser138=
ENST00000465176.5:n.445T>A
ENST00000465423.5:c.570T>A	ENSP00000419263.1:p.Ser190=
ENST00000466072.5:c.483T>A	ENSP00000420158.1:p.Ser161=
ENST00000468777.5:c.576T>A	ENSP00000419129.1:p.Ser192=
ENST00000469217.5:c.543T>A	ENSP00000419027.1:p.Ser181=
ENST00000471595.5:c.483T>A	ENSP00000417549.1:p.Ser161=
ENST00000473073.1:n.440T>A
ENST00000474833.5:n.168+11447T>A
ENST00000475214.5:n.397T>A
ENST00000478469.5:c.483T>A	ENSP00000420759.1:p.Ser161=
ENST00000482086.5:c.135T>A	ENSP00000417253.1:p.Ser45=
ENST00000483687.5:c.426T>A	ENSP00000420639.1:p.Ser142=
ENST00000484181.5:c.483T>A	ENSP00000417937.1:p.Ser161=
ENST00000490504.5:c.372+5382T>A	ENSP00000418307.1:n.372+5382T>A
ENST00000494742.5:c.234T>A	ENSP00000418020.1:p.Ser78=
NM_000532.4:c.483T>A	NP_000523.2:p.Ser161=
NM_001178014.1:c.543T>A	NP_001171485.1:p.Ser181=
XM_011512873.1:c.483T>A	XP_011511175.1:p.Ser161=
XM_011512873.2:c.483T>A	XP_011511175.1:p.Ser161=
NM_000532.5:c.483T>A MANE Select	NP_000523.2:p.Ser161=
NM_001178014.2:c.543T>A	NP_001171485.1:p.Ser181=