Canonical Allele Identifier: CA388640370

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101167784G>C (hg19) ; chr13:g.100515530G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100515530G>C , CM000675.2:g.100515530G>C	GRCh38
NC_000013.10:g.101167784G>C , CM000675.1:g.101167784G>C	GRCh37
NC_000013.9:g.99965785G>C	NCBI36
NG_008768.1:g.431448G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2003G>C MANE Select	ENSP00000365462.1:p.Gly668Ala
ENST00000636366.1:c.1201G>C
ENST00000636475.1:c.1518G>C
ENST00000637657.1:c.1663G>C
ENST00000647303.1:c.*1487G>C	ENSP00000495663.1:n.*1487G>C
ENST00000376279.7:c.1900-12145G>C	ENSP00000365456.3:n.1900-12145G>C
ENST00000376285.5:c.2003G>C	ENSP00000365462.1:p.Gly668Ala
ENST00000376286.8:c.1925G>C	ENSP00000365463.4:p.Gly642Ala
ENST00000428969.1:c.104G>C	ENSP00000399413.1:p.Gly35Ala
ENST00000458283.5:c.257-12145G>C
NM_000282.3:c.2003G>C	NP_000273.2:p.Gly668Ala
NM_001127692.2:c.1925G>C	NP_001121164.1:p.Gly642Ala
NM_001178004.1:c.1900-12145G>C	NP_001171475.1:n.1900-12145G>C
XR_931615.1:n.1898-12145G>C
NM_001352605.1:c.1949G>C	NP_001339534.1:p.Gly650Ala
NM_001352606.1:c.1859G>C	NP_001339535.1:p.Gly620Ala
NM_001352607.1:c.1822-12145G>C	NP_001339536.1:n.1822-12145G>C
NM_001352608.1:c.1781G>C	NP_001339537.1:p.Gly594Ala
NM_001352610.1:c.1058G>C	NP_001339539.1:p.Gly353Ala
NM_001352611.1:c.1004G>C	NP_001339540.1:p.Gly335Ala
NM_001352612.1:c.914G>C	NP_001339541.1:p.Gly305Ala
NR_148027.1:n.2090-12145G>C
NR_148028.1:n.2090G>C
NR_148029.1:n.2012G>C
NR_148030.1:n.2193G>C
NR_148031.1:n.2006G>C
XM_017020609.1:c.1904G>C	XP_016876098.1:p.Gly635Ala
XM_017020612.1:c.*36G>C	XP_016876101.1:n.*36G>C
XM_017020613.1:c.1979-12145G>C	XP_016876102.1:n.1979-12145G>C
XR_001749567.1:n.2183G>C
XR_001749568.1:n.2270G>C
XR_001749569.1:n.2167-12145G>C
XR_001749574.1:n.2039G>C
XR_001749576.1:n.1740G>C
XR_001749577.1:n.1637G>C
NM_000282.4:c.2003G>C MANE Select	NP_000273.2:p.Gly668Ala
NM_001352605.2:c.1949G>C	NP_001339534.1:p.Gly650Ala
NM_001352606.2:c.1859G>C	NP_001339535.1:p.Gly620Ala
NM_001352607.2:c.1822-12145G>C	NP_001339536.1:n.1822-12145G>C
NM_001352608.2:c.1781G>C	NP_001339537.1:p.Gly594Ala
NM_001352610.2:c.1058G>C	NP_001339539.1:p.Gly353Ala
NM_001352611.2:c.1004G>C	NP_001339540.1:p.Gly335Ala
NM_001352612.2:c.914G>C	NP_001339541.1:p.Gly305Ala
NR_148027.2:n.2012-12145G>C
NR_148028.2:n.2012G>C
NR_148029.2:n.1934G>C
NR_148030.2:n.2115G>C
NR_148031.2:n.1928G>C
NM_001127692.3:c.1925G>C	NP_001121164.1:p.Gly642Ala
NM_001178004.2:c.1900-12145G>C	NP_001171475.1:n.1900-12145G>C