Canonical Allele Identifier: CA484534807

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101179955G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100527701G>C , CM000675.2:g.100527701G>C	GRCh38
NC_000013.10:g.101179955G>C , CM000675.1:g.101179955G>C	GRCh37
NC_000013.9:g.99977956G>C	NCBI36
NG_008768.1:g.443619G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2067G>C MANE Select	ENSP00000365462.1:p.Val689=
ENST00000636366.1:c.1265G>C
ENST00000636475.1:c.1582G>C
ENST00000637657.1:c.1727G>C
ENST00000647303.1:c.*1551G>C	ENSP00000495663.1:n.*1551G>C
ENST00000376279.7:c.1926G>C	ENSP00000365456.3:p.Val642=
ENST00000376285.5:c.2067G>C	ENSP00000365462.1:p.Val689=
ENST00000376286.8:c.1989G>C	ENSP00000365463.4:p.Val663=
ENST00000428969.1:c.216G>C	ENSP00000399413.1:p.Val72=
ENST00000458283.5:c.283G>C
NM_000282.3:c.2067G>C	NP_000273.2:p.Val689=
NM_001127692.2:c.1989G>C	NP_001121164.1:p.Val663=
NM_001178004.1:c.1926G>C	NP_001171475.1:p.Val642=
XR_931615.1:n.1924G>C
NM_001352605.1:c.2013G>C	NP_001339534.1:p.Val671=
NM_001352606.1:c.1923G>C	NP_001339535.1:p.Val641=
NM_001352607.1:c.1848G>C	NP_001339536.1:p.Val616=
NM_001352608.1:c.1845G>C	NP_001339537.1:p.Val615=
NM_001352610.1:c.1122G>C	NP_001339539.1:p.Val374=
NM_001352611.1:c.1068G>C	NP_001339540.1:p.Val356=
NM_001352612.1:c.978G>C	NP_001339541.1:p.Val326=
NR_148027.1:n.2116G>C
NR_148028.1:n.2154G>C
NR_148029.1:n.2076G>C
NR_148030.1:n.2257G>C
NR_148031.1:n.2070G>C
XM_017020609.1:c.1968G>C	XP_016876098.1:p.Val656=
XM_017020613.1:c.2005G>C	XP_016876102.1:p.Asp669His
XR_001749567.1:n.2247G>C
XR_001749568.1:n.2334G>C
XR_001749569.1:n.2193G>C
XR_001749574.1:n.2103G>C
XR_001749576.1:n.1804G>C
XR_001749577.1:n.1701G>C
NM_000282.4:c.2067G>C MANE Select	NP_000273.2:p.Val689=
NM_001352605.2:c.2013G>C	NP_001339534.1:p.Val671=
NM_001352606.2:c.1923G>C	NP_001339535.1:p.Val641=
NM_001352607.2:c.1848G>C	NP_001339536.1:p.Val616=
NM_001352608.2:c.1845G>C	NP_001339537.1:p.Val615=
NM_001352610.2:c.1122G>C	NP_001339539.1:p.Val374=
NM_001352611.2:c.1068G>C	NP_001339540.1:p.Val356=
NM_001352612.2:c.978G>C	NP_001339541.1:p.Val326=
NR_148027.2:n.2038G>C
NR_148028.2:n.2076G>C
NR_148029.2:n.1998G>C
NR_148030.2:n.2179G>C
NR_148031.2:n.1992G>C
NM_001127692.3:c.1989G>C	NP_001121164.1:p.Val663=
NM_001178004.2:c.1926G>C	NP_001171475.1:p.Val642=