Canonical Allele Identifier: CA388696760

Gene: PCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100425649C>A , CM000675.2:g.100425649C>A	GRCh38
NC_000013.10:g.101077903C>A , CM000675.1:g.101077903C>A	GRCh37
NC_000013.9:g.99875904C>A	NCBI36
NG_008768.1:g.341567C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000282.4:c.1763C>A MANE Select	NP_000273.2:p.Ser588Ter
ENST00000376285.6:c.1763C>A MANE Select	ENSP00000365462.1:p.Ser588Ter
NM_000282.3:c.1763C>A	NP_000273.2:p.Ser588Ter
NM_001127692.2:c.1685C>A	NP_001121164.1:p.Ser562Ter
NM_001127692.3:c.1685C>A	NP_001121164.1:p.Ser562Ter
NM_001178004.1:c.1763C>A	NP_001171475.1:p.Ser588Ter
NM_001178004.2:c.1763C>A	NP_001171475.1:p.Ser588Ter
NM_001352605.1:c.1763C>A	NP_001339534.1:p.Ser588Ter
NM_001352605.2:c.1763C>A	NP_001339534.1:p.Ser588Ter
NM_001352606.1:c.1619C>A	NP_001339535.1:p.Ser540Ter
NM_001352606.2:c.1619C>A	NP_001339535.1:p.Ser540Ter
NM_001352607.1:c.1685C>A	NP_001339536.1:p.Ser562Ter
NM_001352607.2:c.1685C>A	NP_001339536.1:p.Ser562Ter
NM_001352608.1:c.1541C>A	NP_001339537.1:p.Ser514Ter
NM_001352608.2:c.1541C>A	NP_001339537.1:p.Ser514Ter
NM_001352609.1:c.1763C>A	NP_001339538.1:p.Ser588Ter
NM_001352609.2:c.1763C>A	NP_001339538.1:p.Ser588Ter
NM_001352610.1:c.818C>A	NP_001339539.1:p.Ser273Ter
NM_001352610.2:c.818C>A	NP_001339539.1:p.Ser273Ter
NM_001352611.1:c.818C>A	NP_001339540.1:p.Ser273Ter
NM_001352611.2:c.818C>A	NP_001339540.1:p.Ser273Ter
NM_001352612.1:c.674C>A	NP_001339541.1:p.Ser225Ter
NM_001352612.2:c.674C>A	NP_001339541.1:p.Ser225Ter
NR_148027.1:n.1953C>A
NR_148027.2:n.1875C>A
NR_148028.1:n.1850C>A
NR_148028.2:n.1772C>A
NR_148029.1:n.1772C>A
NR_148029.2:n.1694C>A
NR_148030.1:n.1953C>A
NR_148030.2:n.1875C>A
NR_148031.1:n.1766C>A
NR_148031.2:n.1688C>A
ENST00000376279.7:c.1763C>A	ENSP00000365456.3:p.Ser588Ter
ENST00000376285.5:c.1763C>A	ENSP00000365462.1:p.Ser588Ter
ENST00000376286.8:c.1685C>A	ENSP00000365463.4:p.Ser562Ter
ENST00000413170.1:c.93C>A
ENST00000424527.5:c.365C>A	ENSP00000396050.1:p.Ser122Ter
ENST00000458283.5:c.120C>A
ENST00000636366.1:c.961C>A
ENST00000636475.1:c.1278C>A
ENST00000637657.1:c.1423C>A
ENST00000647303.1:c.*1247C>A	ENSP00000495663.1:n.*1247C>A
XM_005254059.2:c.1763C>A	XP_005254116.1:p.Ser588Ter
XM_011521093.1:c.1763C>A	XP_011519395.1:p.Ser588Ter
XM_017020605.1:c.1763C>A	XP_016876094.1:p.Ser588Ter
XM_017020606.1:c.1685C>A	XP_016876095.1:p.Ser562Ter
XM_017020607.1:c.1664C>A	XP_016876096.1:p.Ser555Ter
XM_017020609.1:c.1664C>A	XP_016876098.1:p.Ser555Ter
XM_017020611.1:c.1763C>A	XP_016876100.1:p.Ser588Ter
XM_017020612.1:c.1763C>A	XP_016876101.1:p.Ser588Ter
XM_017020613.1:c.1763C>A	XP_016876102.1:p.Ser588Ter
XR_001749567.1:n.1864C>A
XR_001749568.1:n.2030C>A
XR_001749569.1:n.2030C>A
XR_001749574.1:n.1799C>A
XR_001749576.1:n.1500C>A
XR_001749577.1:n.1397C>A
XR_931615.1:n.1761C>A