Canonical Allele Identifier: CA388696019

Gene: PCCA

Linked Data

• ClinVar Variation Id: 989599
• ClinVar RCV Id: RCV001277465 ; RCV002462895
• dbSNP Id: rs796052018
• gnomAD v2: 13-101101551-G-A
• gnomAD v3: 13-100449297-G-A
• gnomAD v4: 13-100449297-G-A
• MyVariant Identifiers: chr13:g.101101551G>A (hg19) ; chr13:g.100449297G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100449297G>A , CM000675.2:g.100449297G>A	GRCh38
NC_000013.10:g.101101551G>A , CM000675.1:g.101101551G>A	GRCh37
NC_000013.9:g.99899552G>A	NCBI36
NG_008768.1:g.365215G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.1891G>A MANE Select	ENSP00000365462.1:p.Gly631Ser
ENST00000636366.1:c.1089G>A
ENST00000636475.1:c.1406G>A
ENST00000637657.1:c.1551G>A
ENST00000647303.1:c.*1375G>A	ENSP00000495663.1:n.*1375G>A
ENST00000376279.7:c.1891G>A	ENSP00000365456.3:p.Gly631Ser
ENST00000376285.5:c.1891G>A	ENSP00000365462.1:p.Gly631Ser
ENST00000376286.8:c.1813G>A	ENSP00000365463.4:p.Gly605Ser
ENST00000413170.1:c.221G>A
ENST00000458283.5:c.248G>A
NM_000282.3:c.1891G>A	NP_000273.2:p.Gly631Ser
NM_001127692.2:c.1813G>A	NP_001121164.1:p.Gly605Ser
NM_001178004.1:c.1891G>A	NP_001171475.1:p.Gly631Ser
XM_005254059.2:c.1891G>A	XP_005254116.1:p.Gly631Ser
XM_011521093.1:c.1891G>A	XP_011519395.1:p.Gly631Ser
XR_931615.1:n.1889G>A
NM_001352605.1:c.1845+23566G>A	NP_001339534.1:n.1845+23566G>A
NM_001352606.1:c.1747G>A	NP_001339535.1:p.Gly583Ser
NM_001352607.1:c.1813G>A	NP_001339536.1:p.Gly605Ser
NM_001352608.1:c.1669G>A	NP_001339537.1:p.Gly557Ser
NM_001352609.1:c.1891G>A	NP_001339538.1:p.Gly631Ser
NM_001352610.1:c.946G>A	NP_001339539.1:p.Gly316Ser
NM_001352611.1:c.900+23566G>A	NP_001339540.1:n.900+23566G>A
NM_001352612.1:c.802G>A	NP_001339541.1:p.Gly268Ser
NR_148027.1:n.2081G>A
NR_148028.1:n.1978G>A
NR_148029.1:n.1900G>A
NR_148030.1:n.2081G>A
NR_148031.1:n.1894G>A
XM_017020605.1:c.1970G>A	XP_016876094.1:p.Trp657Ter
XM_017020606.1:c.1892G>A	XP_016876095.1:p.Trp631Ter
XM_017020607.1:c.1871G>A	XP_016876096.1:p.Trp624Ter
XM_017020609.1:c.1792G>A	XP_016876098.1:p.Gly598Ser
XM_017020611.1:c.1970G>A	XP_016876100.1:p.Trp657Ter
XM_017020612.1:c.1970G>A	XP_016876101.1:p.Trp657Ter
XM_017020613.1:c.1970G>A	XP_016876102.1:p.Trp657Ter
XR_001749567.1:n.2071G>A
XR_001749568.1:n.2158G>A
XR_001749569.1:n.2158G>A
XR_001749574.1:n.1927G>A
XR_001749576.1:n.1628G>A
XR_001749577.1:n.1525G>A
NM_000282.4:c.1891G>A MANE Select	NP_000273.2:p.Gly631Ser
NM_001352605.2:c.1845+23566G>A	NP_001339534.1:n.1845+23566G>A
NM_001352606.2:c.1747G>A	NP_001339535.1:p.Gly583Ser
NM_001352607.2:c.1813G>A	NP_001339536.1:p.Gly605Ser
NM_001352608.2:c.1669G>A	NP_001339537.1:p.Gly557Ser
NM_001352609.2:c.1891G>A	NP_001339538.1:p.Gly631Ser
NM_001352610.2:c.946G>A	NP_001339539.1:p.Gly316Ser
NM_001352611.2:c.900+23566G>A	NP_001339540.1:n.900+23566G>A
NM_001352612.2:c.802G>A	NP_001339541.1:p.Gly268Ser
NR_148027.2:n.2003G>A
NR_148028.2:n.1900G>A
NR_148029.2:n.1822G>A
NR_148030.2:n.2003G>A
NR_148031.2:n.1816G>A
NM_001127692.3:c.1813G>A	NP_001121164.1:p.Gly605Ser
NM_001178004.2:c.1891G>A	NP_001171475.1:p.Gly631Ser