Canonical Allele Identifier: CA388641036

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101182365A>C (hg19) ; chr13:g.100530111A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530111A>C , CM000675.2:g.100530111A>C	GRCh38
NC_000013.10:g.101182365A>C , CM000675.1:g.101182365A>C	GRCh37
NC_000013.9:g.99980366A>C	NCBI36
NG_008768.1:g.446029A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.2132A>C MANE Select	ENSP00000365462.1:p.His711Pro
ENST00000636366.1:c.1330A>C
ENST00000636475.1:c.1647A>C
ENST00000637657.1:c.1792A>C
ENST00000647303.1:c.*1616A>C	ENSP00000495663.1:n.*1616A>C
ENST00000376279.7:c.1991A>C	ENSP00000365456.3:p.His664Pro
ENST00000376285.5:c.2132A>C	ENSP00000365462.1:p.His711Pro
ENST00000376286.8:c.2054A>C	ENSP00000365463.4:p.His685Pro
ENST00000428969.1:c.281A>C	ENSP00000399413.1:p.His94Pro
ENST00000458283.5:c.348A>C
NM_000282.3:c.2132A>C	NP_000273.2:p.His711Pro
NM_001127692.2:c.2054A>C	NP_001121164.1:p.His685Pro
NM_001178004.1:c.1991A>C	NP_001171475.1:p.His664Pro
XR_931615.1:n.1989A>C
NM_001352605.1:c.2078A>C	NP_001339534.1:p.His693Pro
NM_001352606.1:c.1988A>C	NP_001339535.1:p.His663Pro
NM_001352607.1:c.1913A>C	NP_001339536.1:p.His638Pro
NM_001352608.1:c.1910A>C	NP_001339537.1:p.His637Pro
NM_001352610.1:c.1187A>C	NP_001339539.1:p.His396Pro
NM_001352611.1:c.1133A>C	NP_001339540.1:p.His378Pro
NM_001352612.1:c.1043A>C	NP_001339541.1:p.His348Pro
NR_148027.1:n.2181A>C
NR_148028.1:n.2219A>C
NR_148029.1:n.2141A>C
NR_148030.1:n.2322A>C
NR_148031.1:n.2135A>C
XM_017020609.1:c.2033A>C	XP_016876098.1:p.His678Pro
XM_017020613.1:c.*60A>C	XP_016876102.1:n.*60A>C
XR_001749567.1:n.2312A>C
XR_001749568.1:n.2399A>C
XR_001749569.1:n.2258A>C
XR_001749576.1:n.1869A>C
XR_001749577.1:n.1766A>C
NM_000282.4:c.2132A>C MANE Select	NP_000273.2:p.His711Pro
NM_001352605.2:c.2078A>C	NP_001339534.1:p.His693Pro
NM_001352606.2:c.1988A>C	NP_001339535.1:p.His663Pro
NM_001352607.2:c.1913A>C	NP_001339536.1:p.His638Pro
NM_001352608.2:c.1910A>C	NP_001339537.1:p.His637Pro
NM_001352610.2:c.1187A>C	NP_001339539.1:p.His396Pro
NM_001352611.2:c.1133A>C	NP_001339540.1:p.His378Pro
NM_001352612.2:c.1043A>C	NP_001339541.1:p.His348Pro
NR_148027.2:n.2103A>C
NR_148028.2:n.2141A>C
NR_148029.2:n.2063A>C
NR_148030.2:n.2244A>C
NR_148031.2:n.2057A>C
NM_001127692.3:c.2054A>C	NP_001121164.1:p.His685Pro
NM_001178004.2:c.1991A>C	NP_001171475.1:p.His664Pro