Canonical Allele Identifier: CA484534645

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101167791G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100515537G>C , CM000675.2:g.100515537G>C	GRCh38
NC_000013.10:g.101167791G>C , CM000675.1:g.101167791G>C	GRCh37
NC_000013.9:g.99965792G>C	NCBI36
NG_008768.1:g.431455G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2010G>C MANE Select	ENSP00000365462.1:p.Val670=
ENST00000636366.1:c.1208G>C
ENST00000636475.1:c.1525G>C
ENST00000637657.1:c.1670G>C
ENST00000647303.1:c.*1494G>C	ENSP00000495663.1:n.*1494G>C
ENST00000376279.7:c.1900-12138G>C	ENSP00000365456.3:n.1900-12138G>C
ENST00000376285.5:c.2010G>C	ENSP00000365462.1:p.Val670=
ENST00000376286.8:c.1932G>C	ENSP00000365463.4:p.Val644=
ENST00000428969.1:c.111G>C	ENSP00000399413.1:p.Val37=
ENST00000458283.5:c.257-12138G>C
NM_000282.3:c.2010G>C	NP_000273.2:p.Val670=
NM_001127692.2:c.1932G>C	NP_001121164.1:p.Val644=
NM_001178004.1:c.1900-12138G>C	NP_001171475.1:n.1900-12138G>C
XR_931615.1:n.1898-12138G>C
NM_001352605.1:c.1956G>C	NP_001339534.1:p.Val652=
NM_001352606.1:c.1866G>C	NP_001339535.1:p.Val622=
NM_001352607.1:c.1822-12138G>C	NP_001339536.1:n.1822-12138G>C
NM_001352608.1:c.1788G>C	NP_001339537.1:p.Val596=
NM_001352610.1:c.1065G>C	NP_001339539.1:p.Val355=
NM_001352611.1:c.1011G>C	NP_001339540.1:p.Val337=
NM_001352612.1:c.921G>C	NP_001339541.1:p.Val307=
NR_148027.1:n.2090-12138G>C
NR_148028.1:n.2097G>C
NR_148029.1:n.2019G>C
NR_148030.1:n.2200G>C
NR_148031.1:n.2013G>C
XM_017020609.1:c.1911G>C	XP_016876098.1:p.Val637=
XM_017020612.1:c.*43G>C	XP_016876101.1:n.*43G>C
XM_017020613.1:c.1979-12138G>C	XP_016876102.1:n.1979-12138G>C
XR_001749567.1:n.2190G>C
XR_001749568.1:n.2277G>C
XR_001749569.1:n.2167-12138G>C
XR_001749574.1:n.2046G>C
XR_001749576.1:n.1747G>C
XR_001749577.1:n.1644G>C
NM_000282.4:c.2010G>C MANE Select	NP_000273.2:p.Val670=
NM_001352605.2:c.1956G>C	NP_001339534.1:p.Val652=
NM_001352606.2:c.1866G>C	NP_001339535.1:p.Val622=
NM_001352607.2:c.1822-12138G>C	NP_001339536.1:n.1822-12138G>C
NM_001352608.2:c.1788G>C	NP_001339537.1:p.Val596=
NM_001352610.2:c.1065G>C	NP_001339539.1:p.Val355=
NM_001352611.2:c.1011G>C	NP_001339540.1:p.Val337=
NM_001352612.2:c.921G>C	NP_001339541.1:p.Val307=
NR_148027.2:n.2012-12138G>C
NR_148028.2:n.2019G>C
NR_148029.2:n.1941G>C
NR_148030.2:n.2122G>C
NR_148031.2:n.1935G>C
NM_001127692.3:c.1932G>C	NP_001121164.1:p.Val644=
NM_001178004.2:c.1900-12138G>C	NP_001171475.1:n.1900-12138G>C