Canonical Allele Identifier: CA7033874

Gene: PCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100515565G>A , CM000675.2:g.100515565G>A	GRCh38
NC_000013.10:g.101167819G>A , CM000675.1:g.101167819G>A	GRCh37
NC_000013.9:g.99965820G>A	NCBI36
NG_008768.1:g.431483G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000282.4:c.2038G>A MANE Select	NP_000273.2:p.Ala680Thr
ENST00000376285.6:c.2038G>A MANE Select	ENSP00000365462.1:p.Ala680Thr
NM_000282.3:c.2038G>A	NP_000273.2:p.Ala680Thr
NM_001127692.2:c.1960G>A	NP_001121164.1:p.Ala654Thr
NM_001127692.3:c.1960G>A	NP_001121164.1:p.Ala654Thr
NM_001178004.1:c.1900-12110G>A	NP_001171475.1:n.1900-12110G>A
NM_001178004.2:c.1900-12110G>A	NP_001171475.1:n.1900-12110G>A
NM_001352605.1:c.1984G>A	NP_001339534.1:p.Ala662Thr
NM_001352605.2:c.1984G>A	NP_001339534.1:p.Ala662Thr
NM_001352606.1:c.1894G>A	NP_001339535.1:p.Ala632Thr
NM_001352606.2:c.1894G>A	NP_001339535.1:p.Ala632Thr
NM_001352607.1:c.1822-12110G>A	NP_001339536.1:n.1822-12110G>A
NM_001352607.2:c.1822-12110G>A	NP_001339536.1:n.1822-12110G>A
NM_001352608.1:c.1816G>A	NP_001339537.1:p.Ala606Thr
NM_001352608.2:c.1816G>A	NP_001339537.1:p.Ala606Thr
NM_001352610.1:c.1093G>A	NP_001339539.1:p.Ala365Thr
NM_001352610.2:c.1093G>A	NP_001339539.1:p.Ala365Thr
NM_001352611.1:c.1039G>A	NP_001339540.1:p.Ala347Thr
NM_001352611.2:c.1039G>A	NP_001339540.1:p.Ala347Thr
NM_001352612.1:c.949G>A	NP_001339541.1:p.Ala317Thr
NM_001352612.2:c.949G>A	NP_001339541.1:p.Ala317Thr
NR_148027.1:n.2090-12110G>A
NR_148027.2:n.2012-12110G>A
NR_148028.1:n.2125G>A
NR_148028.2:n.2047G>A
NR_148029.1:n.2047G>A
NR_148029.2:n.1969G>A
NR_148030.1:n.2228G>A
NR_148030.2:n.2150G>A
NR_148031.1:n.2041G>A
NR_148031.2:n.1963G>A
ENST00000376279.7:c.1900-12110G>A	ENSP00000365456.3:n.1900-12110G>A
ENST00000376285.5:c.2038G>A	ENSP00000365462.1:p.Ala680Thr
ENST00000376286.8:c.1960G>A	ENSP00000365463.4:p.Ala654Thr
ENST00000428969.1:c.139G>A	ENSP00000399413.1:p.Ala47Thr
ENST00000458283.5:c.257-12110G>A
ENST00000636366.1:c.1236G>A
ENST00000636475.1:c.1553G>A
ENST00000637657.1:c.1698G>A
ENST00000647303.1:c.*1522G>A	ENSP00000495663.1:n.*1522G>A
XM_017020609.1:c.1939G>A	XP_016876098.1:p.Ala647Thr
XM_017020612.1:c.*71G>A	XP_016876101.1:n.*71G>A
XM_017020613.1:c.1979-12110G>A	XP_016876102.1:n.1979-12110G>A
XR_001749567.1:n.2218G>A
XR_001749568.1:n.2305G>A
XR_001749569.1:n.2167-12110G>A
XR_001749574.1:n.2074G>A
XR_001749576.1:n.1775G>A
XR_001749577.1:n.1672G>A
XR_931615.1:n.1898-12110G>A