Canonical Allele Identifier: CA10575819

Gene: PCCA

Linked Data

• ClinVar Variation Id: 218251
• ClinVar RCV Id: RCV000235483
• dbSNP Id: rs879253804
• gnomAD v2: 13-100741480-G-A
• gnomAD v4: 13-100089226-G-A
• MyVariant Identifiers: chr13:g.100741480G>A (hg19) ; chr13:g.100089226G>A (hg38)
• PubMed: PMID:27227689

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100089226G>A , CM000675.2:g.100089226G>A	GRCh38
NC_000013.10:g.100741480G>A , CM000675.1:g.100741480G>A	GRCh37
NC_000013.9:g.99539481G>A	NCBI36
NG_008768.1:g.5144G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.105+1G>A MANE Select	ENSP00000365462.1:n.105+1G>A
ENST00000647303.1:c.105+1G>A	ENSP00000495663.1:n.105+1G>A
ENST00000376279.7:c.105+1G>A	ENSP00000365456.3:n.105+1G>A
ENST00000376285.5:c.105+1G>A	ENSP00000365462.1:n.105+1G>A
ENST00000376286.8:c.105+1G>A	ENSP00000365463.4:n.105+1G>A
NM_000282.3:c.105+1G>A	NP_000273.2:n.105+1G>A
NM_001127692.2:c.105+1G>A	NP_001121164.1:n.105+1G>A
NM_001178004.1:c.105+1G>A	NP_001171475.1:n.105+1G>A
XM_005254059.2:c.105+1G>A	XP_005254116.1:n.105+1G>A
XM_011521093.1:c.105+1G>A	XP_011519395.1:n.105+1G>A
XR_931615.1:n.206+1G>A
XR_931616.1:n.206+1G>A
NM_001352605.1:c.105+1G>A	NP_001339534.1:n.105+1G>A
NM_001352606.1:c.105+1G>A	NP_001339535.1:n.105+1G>A
NM_001352607.1:c.105+1G>A	NP_001339536.1:n.105+1G>A
NM_001352608.1:c.105+1G>A	NP_001339537.1:n.105+1G>A
NM_001352609.1:c.105+1G>A	NP_001339538.1:n.105+1G>A
NM_001352610.1:c.-762+1G>A	NP_001339539.1:n.-762+1G>A
NM_001352611.1:c.-762+1G>A	NP_001339540.1:n.-762+1G>A
NM_001352612.1:c.-762+1G>A	NP_001339541.1:n.-762+1G>A
NR_148027.1:n.211+1G>A
NR_148028.1:n.211+1G>A
NR_148029.1:n.211+1G>A
NR_148030.1:n.211+1G>A
NR_148031.1:n.211+1G>A
XM_017020605.1:c.105+1G>A	XP_016876094.1:n.105+1G>A
XM_017020606.1:c.105+1G>A	XP_016876095.1:n.105+1G>A
XM_017020611.1:c.105+1G>A	XP_016876100.1:n.105+1G>A
XM_017020612.1:c.105+1G>A	XP_016876101.1:n.105+1G>A
XM_017020613.1:c.105+1G>A	XP_016876102.1:n.105+1G>A
XM_017020615.1:c.105+1G>A	XP_016876104.1:n.105+1G>A
XM_017020616.1:c.105+1G>A	XP_016876105.1:n.105+1G>A
XR_001749567.1:n.206+1G>A
XR_001749568.1:n.206+1G>A
XR_001749569.1:n.206+1G>A
XR_001749574.1:n.135+1G>A
XR_001749576.1:n.206+1G>A
XR_001749577.1:n.206+1G>A
NM_000282.4:c.105+1G>A MANE Select	NP_000273.2:n.105+1G>A
NM_001352605.2:c.105+1G>A	NP_001339534.1:n.105+1G>A
NM_001352606.2:c.105+1G>A	NP_001339535.1:n.105+1G>A
NM_001352607.2:c.105+1G>A	NP_001339536.1:n.105+1G>A
NM_001352608.2:c.105+1G>A	NP_001339537.1:n.105+1G>A
NM_001352609.2:c.105+1G>A	NP_001339538.1:n.105+1G>A
NM_001352610.2:c.-762+1G>A	NP_001339539.1:n.-762+1G>A
NM_001352611.2:c.-762+1G>A	NP_001339540.1:n.-762+1G>A
NM_001352612.2:c.-762+1G>A	NP_001339541.1:n.-762+1G>A
NR_148027.2:n.133+1G>A
NR_148028.2:n.133+1G>A
NR_148029.2:n.133+1G>A
NR_148030.2:n.133+1G>A
NR_148031.2:n.133+1G>A
NM_001127692.3:c.105+1G>A	NP_001121164.1:n.105+1G>A
NM_001178004.2:c.105+1G>A	NP_001171475.1:n.105+1G>A