Canonical Allele Identifier: CA484534827
Gene: PCCA HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.101179964C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.100527710C>G , CM000675.2:g.100527710C>G GRCh38
NC_000013.10:g.101179964C>G , CM000675.1:g.101179964C>G GRCh37
NC_000013.9:g.99977965C>G NCBI36
NG_008768.1:g.443628C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000376285.6:c.2076C>G MANE Select ENSP00000365462.1:p.Ala692=
ENST00000636366.1:c.1274C>G
ENST00000636475.1:c.1591C>G
ENST00000637657.1:c.1736C>G
ENST00000647303.1:c.*1560C>G ENSP00000495663.1:n.*1560C>G
ENST00000376279.7:c.1935C>G ENSP00000365456.3:p.Ala645=
ENST00000376285.5:c.2076C>G ENSP00000365462.1:p.Ala692=
ENST00000376286.8:c.1998C>G ENSP00000365463.4:p.Ala666=
ENST00000428969.1:c.225C>G ENSP00000399413.1:p.Ala75=
ENST00000458283.5:c.292C>G
NM_000282.3:c.2076C>G NP_000273.2:p.Ala692=
NM_001127692.2:c.1998C>G NP_001121164.1:p.Ala666=
NM_001178004.1:c.1935C>G NP_001171475.1:p.Ala645=
XR_931615.1:n.1933C>G
NM_001352605.1:c.2022C>G NP_001339534.1:p.Ala674=
NM_001352606.1:c.1932C>G NP_001339535.1:p.Ala644=
NM_001352607.1:c.1857C>G NP_001339536.1:p.Ala619=
NM_001352608.1:c.1854C>G NP_001339537.1:p.Ala618=
NM_001352610.1:c.1131C>G NP_001339539.1:p.Ala377=
NM_001352611.1:c.1077C>G NP_001339540.1:p.Ala359=
NM_001352612.1:c.987C>G NP_001339541.1:p.Ala329=
NR_148027.1:n.2125C>G
NR_148028.1:n.2163C>G
NR_148029.1:n.2085C>G
NR_148030.1:n.2266C>G
NR_148031.1:n.2079C>G
XM_017020609.1:c.1977C>G XP_016876098.1:p.Ala659=
XM_017020613.1:c.*4C>G XP_016876102.1:n.*4C>G
XR_001749567.1:n.2256C>G
XR_001749568.1:n.2343C>G
XR_001749569.1:n.2202C>G
XR_001749574.1:n.2112C>G
XR_001749576.1:n.1813C>G
XR_001749577.1:n.1710C>G
NM_000282.4:c.2076C>G MANE Select NP_000273.2:p.Ala692=
NM_001352605.2:c.2022C>G NP_001339534.1:p.Ala674=
NM_001352606.2:c.1932C>G NP_001339535.1:p.Ala644=
NM_001352607.2:c.1857C>G NP_001339536.1:p.Ala619=
NM_001352608.2:c.1854C>G NP_001339537.1:p.Ala618=
NM_001352610.2:c.1131C>G NP_001339539.1:p.Ala377=
NM_001352611.2:c.1077C>G NP_001339540.1:p.Ala359=
NM_001352612.2:c.987C>G NP_001339541.1:p.Ala329=
NR_148027.2:n.2047C>G
NR_148028.2:n.2085C>G
NR_148029.2:n.2007C>G
NR_148030.2:n.2188C>G
NR_148031.2:n.2001C>G
NM_001127692.3:c.1998C>G NP_001121164.1:p.Ala666=
NM_001178004.2:c.1935C>G NP_001171475.1:p.Ala645=