Canonical Allele Identifier: CA2667842979

Gene: PCCB

Linked Data

• gnomAD v4: 3-136329860-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329860A>C , CM000665.2:g.136329860A>C	GRCh38
NC_000003.11:g.136048702A>C , CM000665.1:g.136048702A>C	GRCh37
NC_000003.10:g.137531392A>C	NCBI36
NG_008939.1:g.84536A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1499-45A>C MANE Select	ENSP00000251654.4:n.1499-45A>C
ENST00000251654.8:c.1499-45A>C	ENSP00000251654.4:n.1499-45A>C
ENST00000462637.5:c.1430-45A>C	ENSP00000420391.1:n.1430-45A>C
ENST00000466072.5:c.1559-45A>C	ENSP00000420158.1:n.1559-45A>C
ENST00000468777.5:c.1592-45A>C	ENSP00000419129.1:n.1592-45A>C
ENST00000469217.5:c.1559-45A>C	ENSP00000419027.1:n.1559-45A>C
ENST00000471595.5:c.1499-45A>C	ENSP00000417549.1:n.1499-45A>C
ENST00000473073.1:n.1700-45A>C
ENST00000478469.5:c.885-4420A>C	ENSP00000420759.1:n.885-4420A>C
ENST00000482086.5:c.1151-45A>C	ENSP00000417253.1:n.1151-45A>C
ENST00000483687.5:c.1442-45A>C	ENSP00000420639.1:n.1442-45A>C
ENST00000484181.5:c.*180-45A>C	ENSP00000417937.1:n.*180-45A>C
ENST00000490504.5:c.1328-45A>C	ENSP00000418307.1:n.1328-45A>C
NM_000532.4:c.1499-45A>C	NP_000523.2:n.1499-45A>C
NM_001178014.1:c.1559-45A>C	NP_001171485.1:n.1559-45A>C
NM_000532.5:c.1499-45A>C MANE Select	NP_000523.2:n.1499-45A>C
NM_001178014.2:c.1559-45A>C	NP_001171485.1:n.1559-45A>C