Canonical Allele Identifier: CA2623563003

Gene: PCCA

Linked Data

• gnomAD v4: 13-100530034-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530034C>T , CM000675.2:g.100530034C>T	GRCh38
NC_000013.10:g.101182288C>T , CM000675.1:g.101182288C>T	GRCh37
NC_000013.9:g.99980289C>T	NCBI36
NG_008768.1:g.445952C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.2119-64C>T MANE Select	ENSP00000365462.1:n.2119-64C>T
ENST00000636366.1:c.1317-64C>T
ENST00000636475.1:c.1634-64C>T
ENST00000637657.1:c.1779-64C>T
ENST00000647303.1:c.*1603-64C>T	ENSP00000495663.1:n.*1603-64C>T
ENST00000376279.7:c.1978-64C>T	ENSP00000365456.3:n.1978-64C>T
ENST00000376285.5:c.2119-64C>T	ENSP00000365462.1:n.2119-64C>T
ENST00000376286.8:c.2041-64C>T	ENSP00000365463.4:n.2041-64C>T
ENST00000428969.1:c.268-64C>T	ENSP00000399413.1:n.268-64C>T
ENST00000458283.5:c.335-64C>T
NM_000282.3:c.2119-64C>T	NP_000273.2:n.2119-64C>T
NM_001127692.2:c.2041-64C>T	NP_001121164.1:n.2041-64C>T
NM_001178004.1:c.1978-64C>T	NP_001171475.1:n.1978-64C>T
XR_931615.1:n.1976-64C>T
NM_001352605.1:c.2065-64C>T	NP_001339534.1:n.2065-64C>T
NM_001352606.1:c.1975-64C>T	NP_001339535.1:n.1975-64C>T
NM_001352607.1:c.1900-64C>T	NP_001339536.1:n.1900-64C>T
NM_001352608.1:c.1897-64C>T	NP_001339537.1:n.1897-64C>T
NM_001352610.1:c.1174-64C>T	NP_001339539.1:n.1174-64C>T
NM_001352611.1:c.1120-64C>T	NP_001339540.1:n.1120-64C>T
NM_001352612.1:c.1030-64C>T	NP_001339541.1:n.1030-64C>T
NR_148027.1:n.2168-64C>T
NR_148028.1:n.2206-64C>T
NR_148029.1:n.2128-64C>T
NR_148030.1:n.2309-64C>T
NR_148031.1:n.2122-64C>T
XM_017020609.1:c.2020-64C>T	XP_016876098.1:n.2020-64C>T
XM_017020613.1:c.*47-64C>T	XP_016876102.1:n.*47-64C>T
XR_001749567.1:n.2299-64C>T
XR_001749568.1:n.2386-64C>T
XR_001749569.1:n.2245-64C>T
XR_001749576.1:n.1856-64C>T
XR_001749577.1:n.1753-64C>T
NM_000282.4:c.2119-64C>T MANE Select	NP_000273.2:n.2119-64C>T
NM_001352605.2:c.2065-64C>T	NP_001339534.1:n.2065-64C>T
NM_001352606.2:c.1975-64C>T	NP_001339535.1:n.1975-64C>T
NM_001352607.2:c.1900-64C>T	NP_001339536.1:n.1900-64C>T
NM_001352608.2:c.1897-64C>T	NP_001339537.1:n.1897-64C>T
NM_001352610.2:c.1174-64C>T	NP_001339539.1:n.1174-64C>T
NM_001352611.2:c.1120-64C>T	NP_001339540.1:n.1120-64C>T
NM_001352612.2:c.1030-64C>T	NP_001339541.1:n.1030-64C>T
NR_148027.2:n.2090-64C>T
NR_148028.2:n.2128-64C>T
NR_148029.2:n.2050-64C>T
NR_148030.2:n.2231-64C>T
NR_148031.2:n.2044-64C>T
NM_001127692.3:c.2041-64C>T	NP_001121164.1:n.2041-64C>T
NM_001178004.2:c.1978-64C>T	NP_001171475.1:n.1978-64C>T