Canonical Allele Identifier: CA388695887
Gene: PCCA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.100309900T>A , CM000675.2:g.100309900T>A GRCh38
NC_000013.10:g.100962154T>A , CM000675.1:g.100962154T>A GRCh37
NC_000013.9:g.99760155T>A NCBI36
NG_008768.1:g.225818T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376285.6:c.1421T>A MANE Select ENSP00000365462.1:p.Val474Asp
ENST00000636366.1:c.944+36554T>A
ENST00000636420.1:c.1298T>A
ENST00000636475.1:c.945-20661T>A
ENST00000637657.1:c.1081T>A
ENST00000647303.1:c.*914-20661T>A ENSP00000495663.1:n.*914-20661T>A
ENST00000376279.7:c.1421T>A ENSP00000365456.3:p.Val474Asp
ENST00000376285.5:c.1421T>A ENSP00000365462.1:p.Val474Asp
ENST00000376286.8:c.1343T>A ENSP00000365463.4:p.Val448Asp
ENST00000424527.5:c.31+16646T>A ENSP00000396050.1:n.31+16646T>A
ENST00000443601.1:c.196T>A
NM_000282.3:c.1421T>A NP_000273.2:p.Val474Asp
NM_001127692.2:c.1343T>A NP_001121164.1:p.Val448Asp
NM_001178004.1:c.1421T>A NP_001171475.1:p.Val474Asp
XM_005254059.2:c.1421T>A XP_005254116.1:p.Val474Asp
XM_011521093.1:c.1421T>A XP_011519395.1:p.Val474Asp
XR_931615.1:n.1522T>A
NM_001352605.1:c.1421T>A NP_001339534.1:p.Val474Asp
NM_001352606.1:c.1277T>A NP_001339535.1:p.Val426Asp
NM_001352607.1:c.1343T>A NP_001339536.1:p.Val448Asp
NM_001352608.1:c.1199T>A NP_001339537.1:p.Val400Asp
NM_001352609.1:c.1421T>A NP_001339538.1:p.Val474Asp
NM_001352610.1:c.476T>A NP_001339539.1:p.Val159Asp
NM_001352611.1:c.476T>A NP_001339540.1:p.Val159Asp
NM_001352612.1:c.332T>A NP_001339541.1:p.Val111Asp
NR_148027.1:n.1611T>A
NR_148028.1:n.1611T>A
NR_148029.1:n.1533T>A
NR_148030.1:n.1611T>A
NR_148031.1:n.1527T>A
XM_017020605.1:c.1421T>A XP_016876094.1:p.Val474Asp
XM_017020606.1:c.1343T>A XP_016876095.1:p.Val448Asp
XM_017020607.1:c.1322T>A XP_016876096.1:p.Val441Asp
XM_017020609.1:c.1322T>A XP_016876098.1:p.Val441Asp
XM_017020611.1:c.1421T>A XP_016876100.1:p.Val474Asp
XM_017020612.1:c.1421T>A XP_016876101.1:p.Val474Asp
XM_017020613.1:c.1421T>A XP_016876102.1:p.Val474Asp
XM_017020615.1:c.1421T>A XP_016876104.1:p.Val474Asp
XM_017020616.1:c.1421T>A XP_016876105.1:p.Val474Asp
XR_001749567.1:n.1522T>A
XR_001749568.1:n.1522T>A
XR_001749569.1:n.1522T>A
XR_001749574.1:n.1457T>A
XR_001749576.1:n.1167-20661T>A
XR_001749577.1:n.1167-20661T>A
NM_000282.4:c.1421T>A MANE Select NP_000273.2:p.Val474Asp
NM_001352605.2:c.1421T>A NP_001339534.1:p.Val474Asp
NM_001352606.2:c.1277T>A NP_001339535.1:p.Val426Asp
NM_001352607.2:c.1343T>A NP_001339536.1:p.Val448Asp
NM_001352608.2:c.1199T>A NP_001339537.1:p.Val400Asp
NM_001352609.2:c.1421T>A NP_001339538.1:p.Val474Asp
NM_001352610.2:c.476T>A NP_001339539.1:p.Val159Asp
NM_001352611.2:c.476T>A NP_001339540.1:p.Val159Asp
NM_001352612.2:c.332T>A NP_001339541.1:p.Val111Asp
NR_148027.2:n.1533T>A
NR_148028.2:n.1533T>A
NR_148029.2:n.1455T>A
NR_148030.2:n.1533T>A
NR_148031.2:n.1449T>A
NM_001127692.3:c.1343T>A NP_001121164.1:p.Val448Asp
NM_001178004.2:c.1421T>A NP_001171475.1:p.Val474Asp