Canonical Allele Identifier: CA83821853

Gene: PCCB

Linked Data

• dbSNP Id: rs1035808228
• gnomAD v4: 3-136329851-G-A
• MyVariant Identifiers: chr3:g.136048693G>A (hg19) ; chr3:g.136329851G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329851G>A , CM000665.2:g.136329851G>A	GRCh38
NC_000003.11:g.136048693G>A , CM000665.1:g.136048693G>A	GRCh37
NC_000003.10:g.137531383G>A	NCBI36
NG_008939.1:g.84527G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1499-54G>A MANE Select	ENSP00000251654.4:n.1499-54G>A
ENST00000251654.8:c.1499-54G>A	ENSP00000251654.4:n.1499-54G>A
ENST00000462637.5:c.1430-54G>A	ENSP00000420391.1:n.1430-54G>A
ENST00000466072.5:c.1559-54G>A	ENSP00000420158.1:n.1559-54G>A
ENST00000468777.5:c.1592-54G>A	ENSP00000419129.1:n.1592-54G>A
ENST00000469217.5:c.1559-54G>A	ENSP00000419027.1:n.1559-54G>A
ENST00000471595.5:c.1499-54G>A	ENSP00000417549.1:n.1499-54G>A
ENST00000473073.1:n.1700-54G>A
ENST00000478469.5:c.885-4429G>A	ENSP00000420759.1:n.885-4429G>A
ENST00000482086.5:c.1151-54G>A	ENSP00000417253.1:n.1151-54G>A
ENST00000483687.5:c.1442-54G>A	ENSP00000420639.1:n.1442-54G>A
ENST00000484181.5:c.*180-54G>A	ENSP00000417937.1:n.*180-54G>A
ENST00000490504.5:c.1328-54G>A	ENSP00000418307.1:n.1328-54G>A
NM_000532.4:c.1499-54G>A	NP_000523.2:n.1499-54G>A
NM_001178014.1:c.1559-54G>A	NP_001171485.1:n.1559-54G>A
NM_000532.5:c.1499-54G>A MANE Select	NP_000523.2:n.1499-54G>A
NM_001178014.2:c.1559-54G>A	NP_001171485.1:n.1559-54G>A