Canonical Allele Identifier: CA354649600

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.136047627C>A (hg19) ; chr3:g.136328785C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136328785C>A , CM000665.2:g.136328785C>A	GRCh38
NC_000003.11:g.136047627C>A , CM000665.1:g.136047627C>A	GRCh37
NC_000003.10:g.137530317C>A	NCBI36
NG_008939.1:g.83461C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1426C>A MANE Select	ENSP00000251654.4:p.His476Asn
ENST00000251654.8:c.1426C>A	ENSP00000251654.4:p.His476Asn
ENST00000462637.5:c.1357C>A	ENSP00000420391.1:p.His453Asn
ENST00000466072.5:c.1486C>A	ENSP00000420158.1:p.His496Asn
ENST00000468777.5:c.1519C>A	ENSP00000419129.1:p.His507Asn
ENST00000469217.5:c.1486C>A	ENSP00000419027.1:p.His496Asn
ENST00000471595.5:c.1426C>A	ENSP00000417549.1:p.His476Asn
ENST00000473073.1:n.1627C>A
ENST00000478469.5:c.885-5495C>A	ENSP00000420759.1:n.885-5495C>A
ENST00000482086.5:c.1078C>A	ENSP00000417253.1:p.His360Asn
ENST00000483687.5:c.1369C>A	ENSP00000420639.1:p.His457Asn
ENST00000484181.5:c.*107C>A	ENSP00000417937.1:n.*107C>A
ENST00000490504.5:c.1255C>A	ENSP00000418307.1:p.His419Asn
NM_000532.4:c.1426C>A	NP_000523.2:p.His476Asn
NM_001178014.1:c.1486C>A	NP_001171485.1:p.His496Asn
NM_000532.5:c.1426C>A MANE Select	NP_000523.2:p.His476Asn
NM_001178014.2:c.1486C>A	NP_001171485.1:p.His496Asn