Canonical Allele Identifier: CA2841567710

Gene: PCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100527756A>T , CM000675.2:g.100527756A>T	GRCh38
NC_000013.10:g.101180010A>T , CM000675.1:g.101180010A>T	GRCh37
NC_000013.9:g.99978011A>T	NCBI36
NG_008768.1:g.443674A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.2118+4A>T MANE Select	ENSP00000365462.1:n.2118+4A>T
ENST00000636366.1:c.1316+4A>T
ENST00000636475.1:c.1633+4A>T
ENST00000637657.1:c.1778+4A>T
ENST00000647303.1:c.*1602+4A>T	ENSP00000495663.1:n.*1602+4A>T
ENST00000376279.7:c.1977+4A>T	ENSP00000365456.3:n.1977+4A>T
ENST00000376285.5:c.2118+4A>T	ENSP00000365462.1:n.2118+4A>T
ENST00000376286.8:c.2040+4A>T	ENSP00000365463.4:n.2040+4A>T
ENST00000428969.1:c.267+4A>T	ENSP00000399413.1:n.267+4A>T
ENST00000458283.5:c.334+4A>T
NM_000282.3:c.2118+4A>T	NP_000273.2:n.2118+4A>T
NM_001127692.2:c.2040+4A>T	NP_001121164.1:n.2040+4A>T
NM_001178004.1:c.1977+4A>T	NP_001171475.1:n.1977+4A>T
XR_931615.1:n.1975+4A>T
NM_001352605.1:c.2064+4A>T	NP_001339534.1:n.2064+4A>T
NM_001352606.1:c.1974+4A>T	NP_001339535.1:n.1974+4A>T
NM_001352607.1:c.1899+4A>T	NP_001339536.1:n.1899+4A>T
NM_001352608.1:c.1896+4A>T	NP_001339537.1:n.1896+4A>T
NM_001352610.1:c.1173+4A>T	NP_001339539.1:n.1173+4A>T
NM_001352611.1:c.1119+4A>T	NP_001339540.1:n.1119+4A>T
NM_001352612.1:c.1029+4A>T	NP_001339541.1:n.1029+4A>T
NR_148027.1:n.2167+4A>T
NR_148028.1:n.2205+4A>T
NR_148029.1:n.2127+4A>T
NR_148030.1:n.2308+4A>T
NR_148031.1:n.2121+4A>T
XM_017020609.1:c.2019+4A>T	XP_016876098.1:n.2019+4A>T
XM_017020613.1:c.*46+4A>T	XP_016876102.1:n.*46+4A>T
XR_001749567.1:n.2298+4A>T
XR_001749568.1:n.2385+4A>T
XR_001749569.1:n.2244+4A>T
XR_001749576.1:n.1855+4A>T
XR_001749577.1:n.1752+4A>T
NM_000282.4:c.2118+4A>T MANE Select	NP_000273.2:n.2118+4A>T
NM_001352605.2:c.2064+4A>T	NP_001339534.1:n.2064+4A>T
NM_001352606.2:c.1974+4A>T	NP_001339535.1:n.1974+4A>T
NM_001352607.2:c.1899+4A>T	NP_001339536.1:n.1899+4A>T
NM_001352608.2:c.1896+4A>T	NP_001339537.1:n.1896+4A>T
NM_001352610.2:c.1173+4A>T	NP_001339539.1:n.1173+4A>T
NM_001352611.2:c.1119+4A>T	NP_001339540.1:n.1119+4A>T
NM_001352612.2:c.1029+4A>T	NP_001339541.1:n.1029+4A>T
NR_148027.2:n.2089+4A>T
NR_148028.2:n.2127+4A>T
NR_148029.2:n.2049+4A>T
NR_148030.2:n.2230+4A>T
NR_148031.2:n.2043+4A>T
NM_001127692.3:c.2040+4A>T	NP_001121164.1:n.2040+4A>T
NM_001178004.2:c.1977+4A>T	NP_001171475.1:n.1977+4A>T