Canonical Allele Identifier: CA2631806

Gene: PCCB

Linked Data

• ClinVar Variation Id: 529438
• ClinVar RCV Id: RCV000634873 ; RCV001637106 ; RCV003928063
• dbSNP Id: rs199886085
• ExAC: 3:136002792 A / C
• gnomAD v2: 3-136002792-A-C
• gnomAD v3: 3-136283950-A-C
• gnomAD v4: 3-136283950-A-C
• MyVariant Identifiers: chr3:g.136002792A>C (hg19) ; chr3:g.136283950A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136283950A>C , CM000665.2:g.136283950A>C	GRCh38
NC_000003.11:g.136002792A>C , CM000665.1:g.136002792A>C	GRCh37
NC_000003.10:g.137485482A>C	NCBI36
NG_008939.1:g.38626A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.654+3A>C MANE Select	ENSP00000251654.4:n.654+3A>C
ENST00000251654.8:c.654+3A>C	ENSP00000251654.4:n.654+3A>C
ENST00000462637.5:c.585+3A>C	ENSP00000420391.1:n.585+3A>C
ENST00000466072.5:c.654+3A>C	ENSP00000420158.1:n.654+3A>C
ENST00000468777.5:c.747+3A>C	ENSP00000419129.1:n.747+3A>C
ENST00000469217.5:c.714+3A>C	ENSP00000419027.1:n.714+3A>C
ENST00000471595.5:c.654+3A>C	ENSP00000417549.1:n.654+3A>C
ENST00000473073.1:n.611+3A>C
ENST00000474833.5:n.279+3A>C
ENST00000475214.5:n.568+3A>C
ENST00000478469.5:c.654+3A>C	ENSP00000420759.1:n.654+3A>C
ENST00000482086.5:c.306+3A>C	ENSP00000417253.1:n.306+3A>C
ENST00000483687.5:c.597+3A>C	ENSP00000420639.1:n.597+3A>C
ENST00000484181.5:c.654+3A>C	ENSP00000417937.1:n.654+3A>C
ENST00000490504.5:c.483+3A>C	ENSP00000418307.1:n.483+3A>C
NM_000532.4:c.654+3A>C	NP_000523.2:n.654+3A>C
NM_001178014.1:c.714+3A>C	NP_001171485.1:n.714+3A>C
XM_011512873.1:c.654+3A>C	XP_011511175.1:n.654+3A>C
XM_011512873.2:c.654+3A>C	XP_011511175.1:n.654+3A>C
NM_000532.5:c.654+3A>C MANE Select	NP_000523.2:n.654+3A>C
NM_001178014.2:c.714+3A>C	NP_001171485.1:n.714+3A>C