Canonical Allele Identifier: CA16606728

Gene: PCCA

Linked Data

• ClinVar Variation Id: 385675
• ClinVar RCV Id: RCV000429877 ; RCV001467759
• dbSNP Id: rs903647084
• gnomAD v4: 13-100235832-G-A
• MyVariant Identifiers: chr13:g.100888086G>A (hg19) ; chr13:g.100235832G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100235832G>A , CM000675.2:g.100235832G>A	GRCh38
NC_000013.10:g.100888086G>A , CM000675.1:g.100888086G>A	GRCh37
NC_000013.9:g.99686087G>A	NCBI36
NG_008768.1:g.151750G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.601-10G>A MANE Select	ENSP00000365462.1:n.601-10G>A
ENST00000636366.1:c.480-10G>A
ENST00000636420.1:c.480-10G>A
ENST00000636475.1:c.480-10G>A
ENST00000637358.1:c.480-10G>A
ENST00000637657.1:c.480-10G>A
ENST00000647303.1:c.*449-10G>A	ENSP00000495663.1:n.*449-10G>A
ENST00000376279.7:c.601-10G>A	ENSP00000365456.3:n.601-10G>A
ENST00000376285.5:c.601-10G>A	ENSP00000365462.1:n.601-10G>A
ENST00000376286.8:c.523-10G>A	ENSP00000365463.4:n.523-10G>A
NM_000282.3:c.601-10G>A	NP_000273.2:n.601-10G>A
NM_001127692.2:c.523-10G>A	NP_001121164.1:n.523-10G>A
NM_001178004.1:c.601-10G>A	NP_001171475.1:n.601-10G>A
XM_005254059.2:c.601-10G>A	XP_005254116.1:n.601-10G>A
XM_011521093.1:c.601-10G>A	XP_011519395.1:n.601-10G>A
XR_931615.1:n.702-10G>A
XR_931616.1:n.702-10G>A
NM_001352605.1:c.601-10G>A	NP_001339534.1:n.601-10G>A
NM_001352606.1:c.601-10G>A	NP_001339535.1:n.601-10G>A
NM_001352607.1:c.523-10G>A	NP_001339536.1:n.523-10G>A
NM_001352608.1:c.523-10G>A	NP_001339537.1:n.523-10G>A
NM_001352609.1:c.601-10G>A	NP_001339538.1:n.601-10G>A
NM_001352610.1:c.-266-10G>A	NP_001339539.1:n.-266-10G>A
NM_001352611.1:c.-266-10G>A	NP_001339540.1:n.-266-10G>A
NM_001352612.1:c.-266-10G>A	NP_001339541.1:n.-266-10G>A
NR_148027.1:n.707-10G>A
NR_148028.1:n.707-10G>A
NR_148029.1:n.629-10G>A
NR_148030.1:n.707-10G>A
NR_148031.1:n.707-10G>A
XM_017020605.1:c.601-10G>A	XP_016876094.1:n.601-10G>A
XM_017020606.1:c.523-10G>A	XP_016876095.1:n.523-10G>A
XM_017020607.1:c.502-10G>A	XP_016876096.1:n.502-10G>A
XM_017020609.1:c.502-10G>A	XP_016876098.1:n.502-10G>A
XM_017020611.1:c.601-10G>A	XP_016876100.1:n.601-10G>A
XM_017020612.1:c.601-10G>A	XP_016876101.1:n.601-10G>A
XM_017020613.1:c.601-10G>A	XP_016876102.1:n.601-10G>A
XM_017020615.1:c.601-10G>A	XP_016876104.1:n.601-10G>A
XM_017020616.1:c.601-10G>A	XP_016876105.1:n.601-10G>A
XR_001749567.1:n.702-10G>A
XR_001749568.1:n.702-10G>A
XR_001749569.1:n.702-10G>A
XR_001749574.1:n.553-10G>A
XR_001749576.1:n.702-10G>A
XR_001749577.1:n.702-10G>A
NM_000282.4:c.601-10G>A MANE Select	NP_000273.2:n.601-10G>A
NM_001352605.2:c.601-10G>A	NP_001339534.1:n.601-10G>A
NM_001352606.2:c.601-10G>A	NP_001339535.1:n.601-10G>A
NM_001352607.2:c.523-10G>A	NP_001339536.1:n.523-10G>A
NM_001352608.2:c.523-10G>A	NP_001339537.1:n.523-10G>A
NM_001352609.2:c.601-10G>A	NP_001339538.1:n.601-10G>A
NM_001352610.2:c.-266-10G>A	NP_001339539.1:n.-266-10G>A
NM_001352611.2:c.-266-10G>A	NP_001339540.1:n.-266-10G>A
NM_001352612.2:c.-266-10G>A	NP_001339541.1:n.-266-10G>A
NR_148027.2:n.629-10G>A
NR_148028.2:n.629-10G>A
NR_148029.2:n.551-10G>A
NR_148030.2:n.629-10G>A
NR_148031.2:n.629-10G>A
NM_001127692.3:c.523-10G>A	NP_001121164.1:n.523-10G>A
NM_001178004.2:c.601-10G>A	NP_001171475.1:n.601-10G>A