Canonical Allele Identifier: CA2632234

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329941G>A , CM000665.2:g.136329941G>A	GRCh38
NC_000003.11:g.136048783G>A , CM000665.1:g.136048783G>A	GRCh37
NC_000003.10:g.137531473G>A	NCBI36
NG_008939.1:g.84617G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.1535G>A MANE Select	NP_000523.2:p.Arg512His
ENST00000251654.9:c.1535G>A MANE Select	ENSP00000251654.4:p.Arg512His
NM_000532.4:c.1535G>A	NP_000523.2:p.Arg512His
NM_001178014.1:c.1595G>A	NP_001171485.1:p.Arg532His
NM_001178014.2:c.1595G>A	NP_001171485.1:p.Arg532His
ENST00000251654.8:c.1535G>A	ENSP00000251654.4:p.Arg512His
ENST00000462637.5:c.1466G>A	ENSP00000420391.1:p.Arg489His
ENST00000466072.5:c.1595G>A	ENSP00000420158.1:p.Arg532His
ENST00000468777.5:c.1628G>A	ENSP00000419129.1:p.Arg543His
ENST00000469217.5:c.1595G>A	ENSP00000419027.1:p.Arg532His
ENST00000471595.5:c.1535G>A	ENSP00000417549.1:p.Arg512His
ENST00000473073.1:n.1736G>A
ENST00000478469.5:c.885-4339G>A	ENSP00000420759.1:n.885-4339G>A
ENST00000482086.5:c.1187G>A	ENSP00000417253.1:p.Arg396His
ENST00000483687.5:c.1478G>A	ENSP00000420639.1:p.Arg493His
ENST00000484181.5:c.*216G>A	ENSP00000417937.1:n.*216G>A
ENST00000490504.5:c.1364G>A	ENSP00000418307.1:p.Arg455His