Canonical Allele Identifier: CA255371910

Gene: PCCA

Linked Data

• dbSNP Id: rs534090969
• gnomAD v3: 13-100527598-T-G
• gnomAD v4: 13-100527598-T-G
• MyVariant Identifiers: chr13:g.101179852T>G (hg19) ; chr13:g.100527598T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100527598T>G , CM000675.2:g.100527598T>G	GRCh38
NC_000013.10:g.101179852T>G , CM000675.1:g.101179852T>G	GRCh37
NC_000013.9:g.99977853T>G	NCBI36
NG_008768.1:g.443516T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2041-77T>G MANE Select	ENSP00000365462.1:n.2041-77T>G
ENST00000636366.1:c.1239-77T>G
ENST00000636475.1:c.1556-77T>G
ENST00000637657.1:c.1701-77T>G
ENST00000647303.1:c.*1525-77T>G	ENSP00000495663.1:n.*1525-77T>G
ENST00000376279.7:c.1900-77T>G	ENSP00000365456.3:n.1900-77T>G
ENST00000376285.5:c.2041-77T>G	ENSP00000365462.1:n.2041-77T>G
ENST00000376286.8:c.1963-77T>G	ENSP00000365463.4:n.1963-77T>G
ENST00000428969.1:c.190-77T>G	ENSP00000399413.1:n.190-77T>G
ENST00000458283.5:c.257-77T>G
NM_000282.3:c.2041-77T>G	NP_000273.2:n.2041-77T>G
NM_001127692.2:c.1963-77T>G	NP_001121164.1:n.1963-77T>G
NM_001178004.1:c.1900-77T>G	NP_001171475.1:n.1900-77T>G
XR_931615.1:n.1898-77T>G
NM_001352605.1:c.1987-77T>G	NP_001339534.1:n.1987-77T>G
NM_001352606.1:c.1897-77T>G	NP_001339535.1:n.1897-77T>G
NM_001352607.1:c.1822-77T>G	NP_001339536.1:n.1822-77T>G
NM_001352608.1:c.1819-77T>G	NP_001339537.1:n.1819-77T>G
NM_001352610.1:c.1096-77T>G	NP_001339539.1:n.1096-77T>G
NM_001352611.1:c.1042-77T>G	NP_001339540.1:n.1042-77T>G
NM_001352612.1:c.952-77T>G	NP_001339541.1:n.952-77T>G
NR_148027.1:n.2090-77T>G
NR_148028.1:n.2128-77T>G
NR_148029.1:n.2050-77T>G
NR_148030.1:n.2231-77T>G
NR_148031.1:n.2044-77T>G
XM_017020609.1:c.1942-77T>G	XP_016876098.1:n.1942-77T>G
XM_017020613.1:c.1979-77T>G	XP_016876102.1:n.1979-77T>G
XR_001749567.1:n.2221-77T>G
XR_001749568.1:n.2308-77T>G
XR_001749569.1:n.2167-77T>G
XR_001749574.1:n.2077-77T>G
XR_001749576.1:n.1778-77T>G
XR_001749577.1:n.1675-77T>G
NM_000282.4:c.2041-77T>G MANE Select	NP_000273.2:n.2041-77T>G
NM_001352605.2:c.1987-77T>G	NP_001339534.1:n.1987-77T>G
NM_001352606.2:c.1897-77T>G	NP_001339535.1:n.1897-77T>G
NM_001352607.2:c.1822-77T>G	NP_001339536.1:n.1822-77T>G
NM_001352608.2:c.1819-77T>G	NP_001339537.1:n.1819-77T>G
NM_001352610.2:c.1096-77T>G	NP_001339539.1:n.1096-77T>G
NM_001352611.2:c.1042-77T>G	NP_001339540.1:n.1042-77T>G
NM_001352612.2:c.952-77T>G	NP_001339541.1:n.952-77T>G
NR_148027.2:n.2012-77T>G
NR_148028.2:n.2050-77T>G
NR_148029.2:n.1972-77T>G
NR_148030.2:n.2153-77T>G
NR_148031.2:n.1966-77T>G
NM_001127692.3:c.1963-77T>G	NP_001121164.1:n.1963-77T>G
NM_001178004.2:c.1900-77T>G	NP_001171475.1:n.1900-77T>G