Canonical Allele Identifier: CA388639909
Community Standard Title: NM_000282.4(PCCA):c.1900-2A>G
Gene: PCCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.100515425A>G , CM000675.2:g.100515425A>G GRCh38
NC_000013.10:g.101167679A>G , CM000675.1:g.101167679A>G GRCh37
NC_000013.9:g.99965680A>G NCBI36
NG_008768.1:g.431343A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000282.4:c.1900-2A>G MANE Select NP_000273.2:n.1900-2A>G
ENST00000376285.6:c.1900-2A>G MANE Select ENSP00000365462.1:n.1900-2A>G
NM_000282.3:c.1900-2A>G NP_000273.2:n.1900-2A>G
NM_001127692.2:c.1822-2A>G NP_001121164.1:n.1822-2A>G
NM_001127692.3:c.1822-2A>G NP_001121164.1:n.1822-2A>G
NM_001178004.1:c.1900-12250A>G NP_001171475.1:n.1900-12250A>G
NM_001178004.2:c.1900-12250A>G NP_001171475.1:n.1900-12250A>G
NM_001352605.1:c.1846-2A>G NP_001339534.1:n.1846-2A>G
NM_001352605.2:c.1846-2A>G NP_001339534.1:n.1846-2A>G
NM_001352606.1:c.1756-2A>G NP_001339535.1:n.1756-2A>G
NM_001352606.2:c.1756-2A>G NP_001339535.1:n.1756-2A>G
NM_001352607.1:c.1822-12250A>G NP_001339536.1:n.1822-12250A>G
NM_001352607.2:c.1822-12250A>G NP_001339536.1:n.1822-12250A>G
NM_001352608.1:c.1678-2A>G NP_001339537.1:n.1678-2A>G
NM_001352608.2:c.1678-2A>G NP_001339537.1:n.1678-2A>G
NM_001352610.1:c.955-2A>G NP_001339539.1:n.955-2A>G
NM_001352610.2:c.955-2A>G NP_001339539.1:n.955-2A>G
NM_001352611.1:c.901-2A>G NP_001339540.1:n.901-2A>G
NM_001352611.2:c.901-2A>G NP_001339540.1:n.901-2A>G
NM_001352612.1:c.811-2A>G NP_001339541.1:n.811-2A>G
NM_001352612.2:c.811-2A>G NP_001339541.1:n.811-2A>G
NR_148027.1:n.2090-12250A>G
NR_148027.2:n.2012-12250A>G
NR_148028.1:n.1987-2A>G
NR_148028.2:n.1909-2A>G
NR_148029.1:n.1909-2A>G
NR_148029.2:n.1831-2A>G
NR_148030.1:n.2090-2A>G
NR_148030.2:n.2012-2A>G
NR_148031.1:n.1903-2A>G
NR_148031.2:n.1825-2A>G
ENST00000376279.7:c.1900-12250A>G ENSP00000365456.3:n.1900-12250A>G
ENST00000376285.5:c.1900-2A>G ENSP00000365462.1:n.1900-2A>G
ENST00000376286.8:c.1822-2A>G ENSP00000365463.4:n.1822-2A>G
ENST00000458283.5:c.257-12250A>G
ENST00000636366.1:c.1098-2A>G
ENST00000636475.1:c.1415-2A>G
ENST00000637657.1:c.1560-2A>G
ENST00000647303.1:c.*1384-2A>G ENSP00000495663.1:n.*1384-2A>G
XM_017020609.1:c.1801-2A>G XP_016876098.1:n.1801-2A>G
XM_017020612.1:c.1979-2A>G XP_016876101.1:n.1979-2A>G
XM_017020613.1:c.1979-12250A>G XP_016876102.1:n.1979-12250A>G
XR_001749567.1:n.2080-2A>G
XR_001749568.1:n.2167-2A>G
XR_001749569.1:n.2167-12250A>G
XR_001749574.1:n.1936-2A>G
XR_001749576.1:n.1637-2A>G
XR_001749577.1:n.1534-2A>G
XR_931615.1:n.1898-12250A>G