Canonical Allele Identifier: CA388641085

Gene: PCCA

Linked Data

• gnomAD v4: 13-100530129-C-G
• MyVariant Identifiers: chr13:g.101182383C>G (hg19) ; chr13:g.100530129C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530129C>G , CM000675.2:g.100530129C>G	GRCh38
NC_000013.10:g.101182383C>G , CM000675.1:g.101182383C>G	GRCh37
NC_000013.9:g.99980384C>G	NCBI36
NG_008768.1:g.446047C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.2150C>G MANE Select	ENSP00000365462.1:p.Thr717Arg
ENST00000636366.1:c.1348C>G
ENST00000636475.1:c.1665C>G
ENST00000637657.1:c.1810C>G
ENST00000647303.1:c.*1634C>G	ENSP00000495663.1:n.*1634C>G
ENST00000376279.7:c.2009C>G	ENSP00000365456.3:p.Thr670Arg
ENST00000376285.5:c.2150C>G	ENSP00000365462.1:p.Thr717Arg
ENST00000376286.8:c.2072C>G	ENSP00000365463.4:p.Thr691Arg
ENST00000428969.1:c.299C>G	ENSP00000399413.1:p.Thr100Arg
ENST00000458283.5:c.366C>G
NM_000282.3:c.2150C>G	NP_000273.2:p.Thr717Arg
NM_001127692.2:c.2072C>G	NP_001121164.1:p.Thr691Arg
NM_001178004.1:c.2009C>G	NP_001171475.1:p.Thr670Arg
XR_931615.1:n.2007C>G
NM_001352605.1:c.2096C>G	NP_001339534.1:p.Thr699Arg
NM_001352606.1:c.2006C>G	NP_001339535.1:p.Thr669Arg
NM_001352607.1:c.1931C>G	NP_001339536.1:p.Thr644Arg
NM_001352608.1:c.1928C>G	NP_001339537.1:p.Thr643Arg
NM_001352610.1:c.1205C>G	NP_001339539.1:p.Thr402Arg
NM_001352611.1:c.1151C>G	NP_001339540.1:p.Thr384Arg
NM_001352612.1:c.1061C>G	NP_001339541.1:p.Thr354Arg
NR_148027.1:n.2199C>G
NR_148028.1:n.2237C>G
NR_148029.1:n.2159C>G
NR_148030.1:n.2340C>G
NR_148031.1:n.2153C>G
XM_017020609.1:c.2051C>G	XP_016876098.1:p.Thr684Arg
XM_017020613.1:c.*78C>G	XP_016876102.1:n.*78C>G
XR_001749567.1:n.2330C>G
XR_001749568.1:n.2417C>G
XR_001749569.1:n.2276C>G
XR_001749576.1:n.1887C>G
XR_001749577.1:n.1784C>G
NM_000282.4:c.2150C>G MANE Select	NP_000273.2:p.Thr717Arg
NM_001352605.2:c.2096C>G	NP_001339534.1:p.Thr699Arg
NM_001352606.2:c.2006C>G	NP_001339535.1:p.Thr669Arg
NM_001352607.2:c.1931C>G	NP_001339536.1:p.Thr644Arg
NM_001352608.2:c.1928C>G	NP_001339537.1:p.Thr643Arg
NM_001352610.2:c.1205C>G	NP_001339539.1:p.Thr402Arg
NM_001352611.2:c.1151C>G	NP_001339540.1:p.Thr384Arg
NM_001352612.2:c.1061C>G	NP_001339541.1:p.Thr354Arg
NR_148027.2:n.2121C>G
NR_148028.2:n.2159C>G
NR_148029.2:n.2081C>G
NR_148030.2:n.2262C>G
NR_148031.2:n.2075C>G
NM_001127692.3:c.2072C>G	NP_001121164.1:p.Thr691Arg
NM_001178004.2:c.2009C>G	NP_001171475.1:p.Thr670Arg