Canonical Allele Identifier: CA354739540

Gene: PCCB

Linked Data

• gnomAD v4: 3-136261963-G-T
• MyVariant Identifiers: chr3:g.135980805G>T (hg19) ; chr3:g.136261963G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261963G>T , CM000665.2:g.136261963G>T	GRCh38
NC_000003.11:g.135980805G>T , CM000665.1:g.135980805G>T	GRCh37
NC_000003.10:g.137463495G>T	NCBI36
NG_008939.1:g.16639G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.441G>T MANE Select	ENSP00000251654.4:p.Gln147His
ENST00000251654.8:c.441G>T	ENSP00000251654.4:p.Gln147His
ENST00000459873.1:c.192G>T	ENSP00000419293.1:p.Gln64His
ENST00000462542.5:c.308G>T
ENST00000462637.5:c.372G>T	ENSP00000420391.1:p.Gln124His
ENST00000465176.5:n.403G>T
ENST00000465423.5:c.528G>T	ENSP00000419263.1:p.Gln176His
ENST00000466072.5:c.441G>T	ENSP00000420158.1:p.Gln147His
ENST00000468777.5:c.534G>T	ENSP00000419129.1:p.Gln178His
ENST00000469217.5:c.501G>T	ENSP00000419027.1:p.Gln167His
ENST00000471595.5:c.441G>T	ENSP00000417549.1:p.Gln147His
ENST00000473073.1:n.398G>T
ENST00000474833.5:n.168+11405G>T
ENST00000475214.5:n.355G>T
ENST00000478469.5:c.441G>T	ENSP00000420759.1:p.Gln147His
ENST00000482086.5:c.94-1G>T	ENSP00000417253.1:n.94-1G>T
ENST00000483687.5:c.384G>T	ENSP00000420639.1:p.Gln128His
ENST00000484181.5:c.441G>T	ENSP00000417937.1:p.Gln147His
ENST00000490504.5:c.372+5340G>T	ENSP00000418307.1:n.372+5340G>T
ENST00000494742.5:c.192G>T	ENSP00000418020.1:p.Gln64His
NM_000532.4:c.441G>T	NP_000523.2:p.Gln147His
NM_001178014.1:c.501G>T	NP_001171485.1:p.Gln167His
XM_011512873.1:c.441G>T	XP_011511175.1:p.Gln147His
XM_011512873.2:c.441G>T	XP_011511175.1:p.Gln147His
NM_000532.5:c.441G>T MANE Select	NP_000523.2:p.Gln147His
NM_001178014.2:c.501G>T	NP_001171485.1:p.Gln167His