Canonical Allele Identifier: CA388640161
Gene: PCCA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.100515431A>T , CM000675.2:g.100515431A>T GRCh38
NC_000013.10:g.101167685A>T , CM000675.1:g.101167685A>T GRCh37
NC_000013.9:g.99965686A>T NCBI36
NG_008768.1:g.431349A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376285.6:c.1904A>T MANE Select ENSP00000365462.1:p.Lys635Met
ENST00000636366.1:c.1102A>T
ENST00000636475.1:c.1419A>T
ENST00000637657.1:c.1564A>T
ENST00000647303.1:c.*1388A>T ENSP00000495663.1:n.*1388A>T
ENST00000376279.7:c.1900-12244A>T ENSP00000365456.3:n.1900-12244A>T
ENST00000376285.5:c.1904A>T ENSP00000365462.1:p.Lys635Met
ENST00000376286.8:c.1826A>T ENSP00000365463.4:p.Lys609Met
ENST00000428969.1:c.5A>T ENSP00000399413.1:p.Lys2Met
ENST00000458283.5:c.257-12244A>T
NM_000282.3:c.1904A>T NP_000273.2:p.Lys635Met
NM_001127692.2:c.1826A>T NP_001121164.1:p.Lys609Met
NM_001178004.1:c.1900-12244A>T NP_001171475.1:n.1900-12244A>T
XR_931615.1:n.1898-12244A>T
NM_001352605.1:c.1850A>T NP_001339534.1:p.Lys617Met
NM_001352606.1:c.1760A>T NP_001339535.1:p.Lys587Met
NM_001352607.1:c.1822-12244A>T NP_001339536.1:n.1822-12244A>T
NM_001352608.1:c.1682A>T NP_001339537.1:p.Lys561Met
NM_001352610.1:c.959A>T NP_001339539.1:p.Lys320Met
NM_001352611.1:c.905A>T NP_001339540.1:p.Lys302Met
NM_001352612.1:c.815A>T NP_001339541.1:p.Lys272Met
NR_148027.1:n.2090-12244A>T
NR_148028.1:n.1991A>T
NR_148029.1:n.1913A>T
NR_148030.1:n.2094A>T
NR_148031.1:n.1907A>T
XM_017020609.1:c.1805A>T XP_016876098.1:p.Lys602Met
XM_017020612.1:c.1983A>T XP_016876101.1:p.Gln661His
XM_017020613.1:c.1979-12244A>T XP_016876102.1:n.1979-12244A>T
XR_001749567.1:n.2084A>T
XR_001749568.1:n.2171A>T
XR_001749569.1:n.2167-12244A>T
XR_001749574.1:n.1940A>T
XR_001749576.1:n.1641A>T
XR_001749577.1:n.1538A>T
NM_000282.4:c.1904A>T MANE Select NP_000273.2:p.Lys635Met
NM_001352605.2:c.1850A>T NP_001339534.1:p.Lys617Met
NM_001352606.2:c.1760A>T NP_001339535.1:p.Lys587Met
NM_001352607.2:c.1822-12244A>T NP_001339536.1:n.1822-12244A>T
NM_001352608.2:c.1682A>T NP_001339537.1:p.Lys561Met
NM_001352610.2:c.959A>T NP_001339539.1:p.Lys320Met
NM_001352611.2:c.905A>T NP_001339540.1:p.Lys302Met
NM_001352612.2:c.815A>T NP_001339541.1:p.Lys272Met
NR_148027.2:n.2012-12244A>T
NR_148028.2:n.1913A>T
NR_148029.2:n.1835A>T
NR_148030.2:n.2016A>T
NR_148031.2:n.1829A>T
NM_001127692.3:c.1826A>T NP_001121164.1:p.Lys609Met
NM_001178004.2:c.1900-12244A>T NP_001171475.1:n.1900-12244A>T