Canonical Allele Identifier: CA2114130127

Gene: PCCA

Linked Data

• dbSNP Id: rs2087955035

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100527623T>C , CM000675.2:g.100527623T>C	GRCh38
NC_000013.10:g.101179877T>C , CM000675.1:g.101179877T>C	GRCh37
NC_000013.9:g.99977878T>C	NCBI36
NG_008768.1:g.443541T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2041-52T>C MANE Select	ENSP00000365462.1:n.2041-52T>C
ENST00000636366.1:c.1239-52T>C
ENST00000636475.1:c.1556-52T>C
ENST00000637657.1:c.1701-52T>C
ENST00000647303.1:c.*1525-52T>C	ENSP00000495663.1:n.*1525-52T>C
ENST00000376279.7:c.1900-52T>C	ENSP00000365456.3:n.1900-52T>C
ENST00000376285.5:c.2041-52T>C	ENSP00000365462.1:n.2041-52T>C
ENST00000376286.8:c.1963-52T>C	ENSP00000365463.4:n.1963-52T>C
ENST00000428969.1:c.190-52T>C	ENSP00000399413.1:n.190-52T>C
ENST00000458283.5:c.257-52T>C
NM_000282.3:c.2041-52T>C	NP_000273.2:n.2041-52T>C
NM_001127692.2:c.1963-52T>C	NP_001121164.1:n.1963-52T>C
NM_001178004.1:c.1900-52T>C	NP_001171475.1:n.1900-52T>C
XR_931615.1:n.1898-52T>C
NM_001352605.1:c.1987-52T>C	NP_001339534.1:n.1987-52T>C
NM_001352606.1:c.1897-52T>C	NP_001339535.1:n.1897-52T>C
NM_001352607.1:c.1822-52T>C	NP_001339536.1:n.1822-52T>C
NM_001352608.1:c.1819-52T>C	NP_001339537.1:n.1819-52T>C
NM_001352610.1:c.1096-52T>C	NP_001339539.1:n.1096-52T>C
NM_001352611.1:c.1042-52T>C	NP_001339540.1:n.1042-52T>C
NM_001352612.1:c.952-52T>C	NP_001339541.1:n.952-52T>C
NR_148027.1:n.2090-52T>C
NR_148028.1:n.2128-52T>C
NR_148029.1:n.2050-52T>C
NR_148030.1:n.2231-52T>C
NR_148031.1:n.2044-52T>C
XM_017020609.1:c.1942-52T>C	XP_016876098.1:n.1942-52T>C
XM_017020613.1:c.1979-52T>C	XP_016876102.1:n.1979-52T>C
XR_001749567.1:n.2221-52T>C
XR_001749568.1:n.2308-52T>C
XR_001749569.1:n.2167-52T>C
XR_001749574.1:n.2077-52T>C
XR_001749576.1:n.1778-52T>C
XR_001749577.1:n.1675-52T>C
NM_000282.4:c.2041-52T>C MANE Select	NP_000273.2:n.2041-52T>C
NM_001352605.2:c.1987-52T>C	NP_001339534.1:n.1987-52T>C
NM_001352606.2:c.1897-52T>C	NP_001339535.1:n.1897-52T>C
NM_001352607.2:c.1822-52T>C	NP_001339536.1:n.1822-52T>C
NM_001352608.2:c.1819-52T>C	NP_001339537.1:n.1819-52T>C
NM_001352610.2:c.1096-52T>C	NP_001339539.1:n.1096-52T>C
NM_001352611.2:c.1042-52T>C	NP_001339540.1:n.1042-52T>C
NM_001352612.2:c.952-52T>C	NP_001339541.1:n.952-52T>C
NR_148027.2:n.2012-52T>C
NR_148028.2:n.2050-52T>C
NR_148029.2:n.1972-52T>C
NR_148030.2:n.2153-52T>C
NR_148031.2:n.1966-52T>C
NM_001127692.3:c.1963-52T>C	NP_001121164.1:n.1963-52T>C
NM_001178004.2:c.1900-52T>C	NP_001171475.1:n.1900-52T>C