Canonical Allele Identifier: CA388640619

Gene: PCCA

Linked Data

• gnomAD v4: 13-100527696-T-A
• MyVariant Identifiers: chr13:g.101179950T>A (hg19) ; chr13:g.100527696T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100527696T>A , CM000675.2:g.100527696T>A	GRCh38
NC_000013.10:g.101179950T>A , CM000675.1:g.101179950T>A	GRCh37
NC_000013.9:g.99977951T>A	NCBI36
NG_008768.1:g.443614T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2062T>A MANE Select	ENSP00000365462.1:p.Cys688Ser
ENST00000636366.1:c.1260T>A
ENST00000636475.1:c.1577T>A
ENST00000637657.1:c.1722T>A
ENST00000647303.1:c.*1546T>A	ENSP00000495663.1:n.*1546T>A
ENST00000376279.7:c.1921T>A	ENSP00000365456.3:p.Cys641Ser
ENST00000376285.5:c.2062T>A	ENSP00000365462.1:p.Cys688Ser
ENST00000376286.8:c.1984T>A	ENSP00000365463.4:p.Cys662Ser
ENST00000428969.1:c.211T>A	ENSP00000399413.1:p.Cys71Ser
ENST00000458283.5:c.278T>A
NM_000282.3:c.2062T>A	NP_000273.2:p.Cys688Ser
NM_001127692.2:c.1984T>A	NP_001121164.1:p.Cys662Ser
NM_001178004.1:c.1921T>A	NP_001171475.1:p.Cys641Ser
XR_931615.1:n.1919T>A
NM_001352605.1:c.2008T>A	NP_001339534.1:p.Cys670Ser
NM_001352606.1:c.1918T>A	NP_001339535.1:p.Cys640Ser
NM_001352607.1:c.1843T>A	NP_001339536.1:p.Cys615Ser
NM_001352608.1:c.1840T>A	NP_001339537.1:p.Cys614Ser
NM_001352610.1:c.1117T>A	NP_001339539.1:p.Cys373Ser
NM_001352611.1:c.1063T>A	NP_001339540.1:p.Cys355Ser
NM_001352612.1:c.973T>A	NP_001339541.1:p.Cys325Ser
NR_148027.1:n.2111T>A
NR_148028.1:n.2149T>A
NR_148029.1:n.2071T>A
NR_148030.1:n.2252T>A
NR_148031.1:n.2065T>A
XM_017020609.1:c.1963T>A	XP_016876098.1:p.Cys655Ser
XM_017020613.1:c.2000T>A	XP_016876102.1:p.Leu667Ter
XR_001749567.1:n.2242T>A
XR_001749568.1:n.2329T>A
XR_001749569.1:n.2188T>A
XR_001749574.1:n.2098T>A
XR_001749576.1:n.1799T>A
XR_001749577.1:n.1696T>A
NM_000282.4:c.2062T>A MANE Select	NP_000273.2:p.Cys688Ser
NM_001352605.2:c.2008T>A	NP_001339534.1:p.Cys670Ser
NM_001352606.2:c.1918T>A	NP_001339535.1:p.Cys640Ser
NM_001352607.2:c.1843T>A	NP_001339536.1:p.Cys615Ser
NM_001352608.2:c.1840T>A	NP_001339537.1:p.Cys614Ser
NM_001352610.2:c.1117T>A	NP_001339539.1:p.Cys373Ser
NM_001352611.2:c.1063T>A	NP_001339540.1:p.Cys355Ser
NM_001352612.2:c.973T>A	NP_001339541.1:p.Cys325Ser
NR_148027.2:n.2033T>A
NR_148028.2:n.2071T>A
NR_148029.2:n.1993T>A
NR_148030.2:n.2174T>A
NR_148031.2:n.1987T>A
NM_001127692.3:c.1984T>A	NP_001121164.1:p.Cys662Ser
NM_001178004.2:c.1921T>A	NP_001171475.1:p.Cys641Ser