Canonical Allele Identifier: CA388641041

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101182366C>A (hg19) ; chr13:g.100530112C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530112C>A , CM000675.2:g.100530112C>A	GRCh38
NC_000013.10:g.101182366C>A , CM000675.1:g.101182366C>A	GRCh37
NC_000013.9:g.99980367C>A	NCBI36
NG_008768.1:g.446030C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.2133C>A MANE Select	ENSP00000365462.1:p.His711Gln
ENST00000636366.1:c.1331C>A
ENST00000636475.1:c.1648C>A
ENST00000637657.1:c.1793C>A
ENST00000647303.1:c.*1617C>A	ENSP00000495663.1:n.*1617C>A
ENST00000376279.7:c.1992C>A	ENSP00000365456.3:p.His664Gln
ENST00000376285.5:c.2133C>A	ENSP00000365462.1:p.His711Gln
ENST00000376286.8:c.2055C>A	ENSP00000365463.4:p.His685Gln
ENST00000428969.1:c.282C>A	ENSP00000399413.1:p.His94Gln
ENST00000458283.5:c.349C>A
NM_000282.3:c.2133C>A	NP_000273.2:p.His711Gln
NM_001127692.2:c.2055C>A	NP_001121164.1:p.His685Gln
NM_001178004.1:c.1992C>A	NP_001171475.1:p.His664Gln
XR_931615.1:n.1990C>A
NM_001352605.1:c.2079C>A	NP_001339534.1:p.His693Gln
NM_001352606.1:c.1989C>A	NP_001339535.1:p.His663Gln
NM_001352607.1:c.1914C>A	NP_001339536.1:p.His638Gln
NM_001352608.1:c.1911C>A	NP_001339537.1:p.His637Gln
NM_001352610.1:c.1188C>A	NP_001339539.1:p.His396Gln
NM_001352611.1:c.1134C>A	NP_001339540.1:p.His378Gln
NM_001352612.1:c.1044C>A	NP_001339541.1:p.His348Gln
NR_148027.1:n.2182C>A
NR_148028.1:n.2220C>A
NR_148029.1:n.2142C>A
NR_148030.1:n.2323C>A
NR_148031.1:n.2136C>A
XM_017020609.1:c.2034C>A	XP_016876098.1:p.His678Gln
XM_017020613.1:c.*61C>A	XP_016876102.1:n.*61C>A
XR_001749567.1:n.2313C>A
XR_001749568.1:n.2400C>A
XR_001749569.1:n.2259C>A
XR_001749576.1:n.1870C>A
XR_001749577.1:n.1767C>A
NM_000282.4:c.2133C>A MANE Select	NP_000273.2:p.His711Gln
NM_001352605.2:c.2079C>A	NP_001339534.1:p.His693Gln
NM_001352606.2:c.1989C>A	NP_001339535.1:p.His663Gln
NM_001352607.2:c.1914C>A	NP_001339536.1:p.His638Gln
NM_001352608.2:c.1911C>A	NP_001339537.1:p.His637Gln
NM_001352610.2:c.1188C>A	NP_001339539.1:p.His396Gln
NM_001352611.2:c.1134C>A	NP_001339540.1:p.His378Gln
NM_001352612.2:c.1044C>A	NP_001339541.1:p.His348Gln
NR_148027.2:n.2104C>A
NR_148028.2:n.2142C>A
NR_148029.2:n.2064C>A
NR_148030.2:n.2245C>A
NR_148031.2:n.2058C>A
NM_001127692.3:c.2055C>A	NP_001121164.1:p.His685Gln
NM_001178004.2:c.1992C>A	NP_001171475.1:p.His664Gln