Canonical Allele Identifier: CA899353405

Gene: PCCB

Linked Data

• dbSNP Id: rs1388119674
• gnomAD v3: 3-136262374-A-T
• gnomAD v4: 3-136262374-A-T
• MyVariant Identifiers: chr3:g.135981216A>T (hg19) ; chr3:g.136262374A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262374A>T , CM000665.2:g.136262374A>T	GRCh38
NC_000003.11:g.135981216A>T , CM000665.1:g.135981216A>T	GRCh37
NC_000003.10:g.137463906A>T	NCBI36
NG_008939.1:g.17050A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.543+309A>T MANE Select	ENSP00000251654.4:n.543+309A>T
ENST00000251654.8:c.543+309A>T	ENSP00000251654.4:n.543+309A>T
ENST00000459873.1:c.294+309A>T	ENSP00000419293.1:n.294+309A>T
ENST00000462542.5:c.410+309A>T
ENST00000462637.5:c.474+309A>T	ENSP00000420391.1:n.474+309A>T
ENST00000465176.5:n.505+309A>T
ENST00000466072.5:c.543+309A>T	ENSP00000420158.1:n.543+309A>T
ENST00000468777.5:c.636+309A>T	ENSP00000419129.1:n.636+309A>T
ENST00000469217.5:c.603+309A>T	ENSP00000419027.1:n.603+309A>T
ENST00000471595.5:c.543+309A>T	ENSP00000417549.1:n.543+309A>T
ENST00000473073.1:n.500+309A>T
ENST00000474833.5:n.168+11816A>T
ENST00000475214.5:n.457+309A>T
ENST00000478469.5:c.543+309A>T	ENSP00000420759.1:n.543+309A>T
ENST00000482086.5:c.195+309A>T	ENSP00000417253.1:n.195+309A>T
ENST00000483687.5:c.486+309A>T	ENSP00000420639.1:n.486+309A>T
ENST00000484181.5:c.543+309A>T	ENSP00000417937.1:n.543+309A>T
ENST00000490504.5:c.372+5751A>T	ENSP00000418307.1:n.372+5751A>T
NM_000532.4:c.543+309A>T	NP_000523.2:n.543+309A>T
NM_001178014.1:c.603+309A>T	NP_001171485.1:n.603+309A>T
XM_011512873.1:c.543+309A>T	XP_011511175.1:n.543+309A>T
XM_011512873.2:c.543+309A>T	XP_011511175.1:n.543+309A>T
NM_000532.5:c.543+309A>T MANE Select	NP_000523.2:n.543+309A>T
NM_001178014.2:c.603+309A>T	NP_001171485.1:n.603+309A>T