Canonical Allele Identifier: CA484534648

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101167794G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100515540G>C , CM000675.2:g.100515540G>C	GRCh38
NC_000013.10:g.101167794G>C , CM000675.1:g.101167794G>C	GRCh37
NC_000013.9:g.99965795G>C	NCBI36
NG_008768.1:g.431458G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2013G>C MANE Select	ENSP00000365462.1:p.Val671=
ENST00000636366.1:c.1211G>C
ENST00000636475.1:c.1528G>C
ENST00000637657.1:c.1673G>C
ENST00000647303.1:c.*1497G>C	ENSP00000495663.1:n.*1497G>C
ENST00000376279.7:c.1900-12135G>C	ENSP00000365456.3:n.1900-12135G>C
ENST00000376285.5:c.2013G>C	ENSP00000365462.1:p.Val671=
ENST00000376286.8:c.1935G>C	ENSP00000365463.4:p.Val645=
ENST00000428969.1:c.114G>C	ENSP00000399413.1:p.Val38=
ENST00000458283.5:c.257-12135G>C
NM_000282.3:c.2013G>C	NP_000273.2:p.Val671=
NM_001127692.2:c.1935G>C	NP_001121164.1:p.Val645=
NM_001178004.1:c.1900-12135G>C	NP_001171475.1:n.1900-12135G>C
XR_931615.1:n.1898-12135G>C
NM_001352605.1:c.1959G>C	NP_001339534.1:p.Val653=
NM_001352606.1:c.1869G>C	NP_001339535.1:p.Val623=
NM_001352607.1:c.1822-12135G>C	NP_001339536.1:n.1822-12135G>C
NM_001352608.1:c.1791G>C	NP_001339537.1:p.Val597=
NM_001352610.1:c.1068G>C	NP_001339539.1:p.Val356=
NM_001352611.1:c.1014G>C	NP_001339540.1:p.Val338=
NM_001352612.1:c.924G>C	NP_001339541.1:p.Val308=
NR_148027.1:n.2090-12135G>C
NR_148028.1:n.2100G>C
NR_148029.1:n.2022G>C
NR_148030.1:n.2203G>C
NR_148031.1:n.2016G>C
XM_017020609.1:c.1914G>C	XP_016876098.1:p.Val638=
XM_017020612.1:c.*46G>C	XP_016876101.1:n.*46G>C
XM_017020613.1:c.1979-12135G>C	XP_016876102.1:n.1979-12135G>C
XR_001749567.1:n.2193G>C
XR_001749568.1:n.2280G>C
XR_001749569.1:n.2167-12135G>C
XR_001749574.1:n.2049G>C
XR_001749576.1:n.1750G>C
XR_001749577.1:n.1647G>C
NM_000282.4:c.2013G>C MANE Select	NP_000273.2:p.Val671=
NM_001352605.2:c.1959G>C	NP_001339534.1:p.Val653=
NM_001352606.2:c.1869G>C	NP_001339535.1:p.Val623=
NM_001352607.2:c.1822-12135G>C	NP_001339536.1:n.1822-12135G>C
NM_001352608.2:c.1791G>C	NP_001339537.1:p.Val597=
NM_001352610.2:c.1068G>C	NP_001339539.1:p.Val356=
NM_001352611.2:c.1014G>C	NP_001339540.1:p.Val338=
NM_001352612.2:c.924G>C	NP_001339541.1:p.Val308=
NR_148027.2:n.2012-12135G>C
NR_148028.2:n.2022G>C
NR_148029.2:n.1944G>C
NR_148030.2:n.2125G>C
NR_148031.2:n.1938G>C
NM_001127692.3:c.1935G>C	NP_001121164.1:p.Val645=
NM_001178004.2:c.1900-12135G>C	NP_001171475.1:n.1900-12135G>C