Canonical Allele Identifier: CA388640446

Gene: PCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100515569T>G , CM000675.2:g.100515569T>G	GRCh38
NC_000013.10:g.101167823T>G , CM000675.1:g.101167823T>G	GRCh37
NC_000013.9:g.99965824T>G	NCBI36
NG_008768.1:g.431487T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000282.4:c.2040+2T>G MANE Select	NP_000273.2:n.2040+2T>G
ENST00000376285.6:c.2040+2T>G MANE Select	ENSP00000365462.1:n.2040+2T>G
NM_000282.3:c.2040+2T>G	NP_000273.2:n.2040+2T>G
NM_001127692.2:c.1962+2T>G	NP_001121164.1:n.1962+2T>G
NM_001127692.3:c.1962+2T>G	NP_001121164.1:n.1962+2T>G
NM_001178004.1:c.1900-12106T>G	NP_001171475.1:n.1900-12106T>G
NM_001178004.2:c.1900-12106T>G	NP_001171475.1:n.1900-12106T>G
NM_001352605.1:c.1986+2T>G	NP_001339534.1:n.1986+2T>G
NM_001352605.2:c.1986+2T>G	NP_001339534.1:n.1986+2T>G
NM_001352606.1:c.1896+2T>G	NP_001339535.1:n.1896+2T>G
NM_001352606.2:c.1896+2T>G	NP_001339535.1:n.1896+2T>G
NM_001352607.1:c.1822-12106T>G	NP_001339536.1:n.1822-12106T>G
NM_001352607.2:c.1822-12106T>G	NP_001339536.1:n.1822-12106T>G
NM_001352608.1:c.1818+2T>G	NP_001339537.1:n.1818+2T>G
NM_001352608.2:c.1818+2T>G	NP_001339537.1:n.1818+2T>G
NM_001352610.1:c.1095+2T>G	NP_001339539.1:n.1095+2T>G
NM_001352610.2:c.1095+2T>G	NP_001339539.1:n.1095+2T>G
NM_001352611.1:c.1041+2T>G	NP_001339540.1:n.1041+2T>G
NM_001352611.2:c.1041+2T>G	NP_001339540.1:n.1041+2T>G
NM_001352612.1:c.951+2T>G	NP_001339541.1:n.951+2T>G
NM_001352612.2:c.951+2T>G	NP_001339541.1:n.951+2T>G
NR_148027.1:n.2090-12106T>G
NR_148027.2:n.2012-12106T>G
NR_148028.1:n.2127+2T>G
NR_148028.2:n.2049+2T>G
NR_148029.1:n.2049+2T>G
NR_148029.2:n.1971+2T>G
NR_148030.1:n.2230+2T>G
NR_148030.2:n.2152+2T>G
NR_148031.1:n.2043+2T>G
NR_148031.2:n.1965+2T>G
ENST00000376279.7:c.1900-12106T>G	ENSP00000365456.3:n.1900-12106T>G
ENST00000376285.5:c.2040+2T>G	ENSP00000365462.1:n.2040+2T>G
ENST00000376286.8:c.1962+2T>G	ENSP00000365463.4:n.1962+2T>G
ENST00000428969.1:c.141+2T>G	ENSP00000399413.1:n.141+2T>G
ENST00000458283.5:c.257-12106T>G
ENST00000636366.1:c.1238+2T>G
ENST00000636475.1:c.1555+2T>G
ENST00000637657.1:c.1700+2T>G
ENST00000647303.1:c.*1524+2T>G	ENSP00000495663.1:n.*1524+2T>G
XM_017020609.1:c.1941+2T>G	XP_016876098.1:n.1941+2T>G
XM_017020612.1:c.*75T>G	XP_016876101.1:n.*75T>G
XM_017020613.1:c.1979-12106T>G	XP_016876102.1:n.1979-12106T>G
XR_001749567.1:n.2220+2T>G
XR_001749568.1:n.2307+2T>G
XR_001749569.1:n.2167-12106T>G
XR_001749574.1:n.2076+2T>G
XR_001749576.1:n.1777+2T>G
XR_001749577.1:n.1674+2T>G
XR_931615.1:n.1898-12106T>G