Canonical Allele Identifier: CA2575446991
Gene: PCCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.100527618A>T , CM000675.2:g.100527618A>T GRCh38
NC_000013.10:g.101179872A>T , CM000675.1:g.101179872A>T GRCh37
NC_000013.9:g.99977873A>T NCBI36
NG_008768.1:g.443536A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376285.6:c.2041-57A>T MANE Select ENSP00000365462.1:n.2041-57A>T
ENST00000636366.1:c.1239-57A>T
ENST00000636475.1:c.1556-57A>T
ENST00000637657.1:c.1701-57A>T
ENST00000647303.1:c.*1525-57A>T ENSP00000495663.1:n.*1525-57A>T
ENST00000376279.7:c.1900-57A>T ENSP00000365456.3:n.1900-57A>T
ENST00000376285.5:c.2041-57A>T ENSP00000365462.1:n.2041-57A>T
ENST00000376286.8:c.1963-57A>T ENSP00000365463.4:n.1963-57A>T
ENST00000428969.1:c.190-57A>T ENSP00000399413.1:n.190-57A>T
ENST00000458283.5:c.257-57A>T
NM_000282.3:c.2041-57A>T NP_000273.2:n.2041-57A>T
NM_001127692.2:c.1963-57A>T NP_001121164.1:n.1963-57A>T
NM_001178004.1:c.1900-57A>T NP_001171475.1:n.1900-57A>T
XR_931615.1:n.1898-57A>T
NM_001352605.1:c.1987-57A>T NP_001339534.1:n.1987-57A>T
NM_001352606.1:c.1897-57A>T NP_001339535.1:n.1897-57A>T
NM_001352607.1:c.1822-57A>T NP_001339536.1:n.1822-57A>T
NM_001352608.1:c.1819-57A>T NP_001339537.1:n.1819-57A>T
NM_001352610.1:c.1096-57A>T NP_001339539.1:n.1096-57A>T
NM_001352611.1:c.1042-57A>T NP_001339540.1:n.1042-57A>T
NM_001352612.1:c.952-57A>T NP_001339541.1:n.952-57A>T
NR_148027.1:n.2090-57A>T
NR_148028.1:n.2128-57A>T
NR_148029.1:n.2050-57A>T
NR_148030.1:n.2231-57A>T
NR_148031.1:n.2044-57A>T
XM_017020609.1:c.1942-57A>T XP_016876098.1:n.1942-57A>T
XM_017020613.1:c.1979-57A>T XP_016876102.1:n.1979-57A>T
XR_001749567.1:n.2221-57A>T
XR_001749568.1:n.2308-57A>T
XR_001749569.1:n.2167-57A>T
XR_001749574.1:n.2077-57A>T
XR_001749576.1:n.1778-57A>T
XR_001749577.1:n.1675-57A>T
NM_000282.4:c.2041-57A>T MANE Select NP_000273.2:n.2041-57A>T
NM_001352605.2:c.1987-57A>T NP_001339534.1:n.1987-57A>T
NM_001352606.2:c.1897-57A>T NP_001339535.1:n.1897-57A>T
NM_001352607.2:c.1822-57A>T NP_001339536.1:n.1822-57A>T
NM_001352608.2:c.1819-57A>T NP_001339537.1:n.1819-57A>T
NM_001352610.2:c.1096-57A>T NP_001339539.1:n.1096-57A>T
NM_001352611.2:c.1042-57A>T NP_001339540.1:n.1042-57A>T
NM_001352612.2:c.952-57A>T NP_001339541.1:n.952-57A>T
NR_148027.2:n.2012-57A>T
NR_148028.2:n.2050-57A>T
NR_148029.2:n.1972-57A>T
NR_148030.2:n.2153-57A>T
NR_148031.2:n.1966-57A>T
NM_001127692.3:c.1963-57A>T NP_001121164.1:n.1963-57A>T
NM_001178004.2:c.1900-57A>T NP_001171475.1:n.1900-57A>T