Canonical Allele Identifier: CA388695772
Gene: PCCA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.100309845G>C , CM000675.2:g.100309845G>C GRCh38
NC_000013.10:g.100962099G>C , CM000675.1:g.100962099G>C GRCh37
NC_000013.9:g.99760100G>C NCBI36
NG_008768.1:g.225763G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376285.6:c.1366G>C MANE Select ENSP00000365462.1:p.Gly456Arg
ENST00000636366.1:c.944+36499G>C
ENST00000636420.1:c.1243G>C
ENST00000636475.1:c.945-20716G>C
ENST00000637657.1:c.1026G>C
ENST00000647303.1:c.*914-20716G>C ENSP00000495663.1:n.*914-20716G>C
ENST00000376279.7:c.1366G>C ENSP00000365456.3:p.Gly456Arg
ENST00000376285.5:c.1366G>C ENSP00000365462.1:p.Gly456Arg
ENST00000376286.8:c.1288G>C ENSP00000365463.4:p.Gly430Arg
ENST00000424527.5:c.31+16591G>C ENSP00000396050.1:n.31+16591G>C
ENST00000443601.1:c.141G>C
NM_000282.3:c.1366G>C NP_000273.2:p.Gly456Arg
NM_001127692.2:c.1288G>C NP_001121164.1:p.Gly430Arg
NM_001178004.1:c.1366G>C NP_001171475.1:p.Gly456Arg
XM_005254059.2:c.1366G>C XP_005254116.1:p.Gly456Arg
XM_011521093.1:c.1366G>C XP_011519395.1:p.Gly456Arg
XR_931615.1:n.1467G>C
NM_001352605.1:c.1366G>C NP_001339534.1:p.Gly456Arg
NM_001352606.1:c.1222G>C NP_001339535.1:p.Gly408Arg
NM_001352607.1:c.1288G>C NP_001339536.1:p.Gly430Arg
NM_001352608.1:c.1144G>C NP_001339537.1:p.Gly382Arg
NM_001352609.1:c.1366G>C NP_001339538.1:p.Gly456Arg
NM_001352610.1:c.421G>C NP_001339539.1:p.Gly141Arg
NM_001352611.1:c.421G>C NP_001339540.1:p.Gly141Arg
NM_001352612.1:c.277G>C NP_001339541.1:p.Gly93Arg
NR_148027.1:n.1556G>C
NR_148028.1:n.1556G>C
NR_148029.1:n.1478G>C
NR_148030.1:n.1556G>C
NR_148031.1:n.1472G>C
XM_017020605.1:c.1366G>C XP_016876094.1:p.Gly456Arg
XM_017020606.1:c.1288G>C XP_016876095.1:p.Gly430Arg
XM_017020607.1:c.1267G>C XP_016876096.1:p.Gly423Arg
XM_017020609.1:c.1267G>C XP_016876098.1:p.Gly423Arg
XM_017020611.1:c.1366G>C XP_016876100.1:p.Gly456Arg
XM_017020612.1:c.1366G>C XP_016876101.1:p.Gly456Arg
XM_017020613.1:c.1366G>C XP_016876102.1:p.Gly456Arg
XM_017020615.1:c.1366G>C XP_016876104.1:p.Gly456Arg
XM_017020616.1:c.1366G>C XP_016876105.1:p.Gly456Arg
XR_001749567.1:n.1467G>C
XR_001749568.1:n.1467G>C
XR_001749569.1:n.1467G>C
XR_001749574.1:n.1402G>C
XR_001749576.1:n.1167-20716G>C
XR_001749577.1:n.1167-20716G>C
NM_000282.4:c.1366G>C MANE Select NP_000273.2:p.Gly456Arg
NM_001352605.2:c.1366G>C NP_001339534.1:p.Gly456Arg
NM_001352606.2:c.1222G>C NP_001339535.1:p.Gly408Arg
NM_001352607.2:c.1288G>C NP_001339536.1:p.Gly430Arg
NM_001352608.2:c.1144G>C NP_001339537.1:p.Gly382Arg
NM_001352609.2:c.1366G>C NP_001339538.1:p.Gly456Arg
NM_001352610.2:c.421G>C NP_001339539.1:p.Gly141Arg
NM_001352611.2:c.421G>C NP_001339540.1:p.Gly141Arg
NM_001352612.2:c.277G>C NP_001339541.1:p.Gly93Arg
NR_148027.2:n.1478G>C
NR_148028.2:n.1478G>C
NR_148029.2:n.1400G>C
NR_148030.2:n.1478G>C
NR_148031.2:n.1394G>C
NM_001127692.3:c.1288G>C NP_001121164.1:p.Gly430Arg
NM_001178004.2:c.1366G>C NP_001171475.1:p.Gly456Arg