Canonical Allele Identifier: CA354644395

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136297962C>A , CM000665.2:g.136297962C>A	GRCh38
NC_000003.11:g.136016804C>A , CM000665.1:g.136016804C>A	GRCh37
NC_000003.10:g.137499494C>A	NCBI36
NG_008939.1:g.52638C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.774C>A MANE Select	NP_000523.2:p.His258Gln
ENST00000251654.9:c.774C>A MANE Select	ENSP00000251654.4:p.His258Gln
NM_000532.4:c.774C>A	NP_000523.2:p.His258Gln
NM_001178014.1:c.834C>A	NP_001171485.1:p.His278Gln
NM_001178014.2:c.834C>A	NP_001171485.1:p.His278Gln
ENST00000251654.8:c.774C>A	ENSP00000251654.4:p.His258Gln
ENST00000462637.5:c.705C>A	ENSP00000420391.1:p.His235Gln
ENST00000466072.5:c.774C>A	ENSP00000420158.1:p.His258Gln
ENST00000468777.5:c.867C>A	ENSP00000419129.1:p.His289Gln
ENST00000469217.5:c.834C>A	ENSP00000419027.1:p.His278Gln
ENST00000471595.5:c.774C>A	ENSP00000417549.1:p.His258Gln
ENST00000473073.1:n.731C>A
ENST00000474833.5:n.399C>A
ENST00000475214.5:n.688C>A
ENST00000478469.5:c.774C>A	ENSP00000420759.1:p.His258Gln
ENST00000482086.5:c.426C>A	ENSP00000417253.1:p.His142Gln
ENST00000483687.5:c.717C>A	ENSP00000420639.1:p.His239Gln
ENST00000484181.5:c.774C>A	ENSP00000417937.1:p.His258Gln
ENST00000490504.5:c.603C>A	ENSP00000418307.1:p.His201Gln
XM_011512873.1:c.774C>A	XP_011511175.1:p.His258Gln
XM_011512873.2:c.774C>A	XP_011511175.1:p.His258Gln