Canonical Allele Identifier: CA7033421
Gene: PCCA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 255737
ClinVar RCV Id: RCV000246877
dbSNP Id: rs121964957

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.100268731A>C , CM000675.2:g.100268731A>C GRCh38
NC_000013.9:g.99718986A>C NCBI36
NC_000013.10:g.100920985A>C , CM000675.1:g.100920985A>C GRCh37
NG_008768.1:g.184649A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376279.7:c.862A>C ENSP00000365456.3:p.Arg288=
ENST00000376285.5:c.862A>C ENSP00000365462.1:p.Arg288=
ENST00000376286.8:c.784A>C ENSP00000365463.4:p.Arg262=
NM_000282.3:c.862A>C NP_000273.2:p.Arg288=
NM_001127692.2:c.784A>C NP_001121164.1:p.Arg262=
NM_001178004.1:c.862A>C NP_001171475.1:p.Arg288=
XM_005254059.2:c.862A>C XP_005254116.1:p.Arg288=
XM_011521093.1:c.862A>C XP_011519395.1:p.Arg288=
XR_931615.1:n.963A>C
XR_931616.1:n.963A>C