Canonical Allele Identifier: CA2114131458

Gene: GGACT PCCA

Linked Data

• dbSNP Id: rs2088311218
• gnomAD v4: 13-100530296-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530296A>G , CM000675.2:g.100530296A>G	GRCh38
NC_000013.10:g.101182550A>G , CM000675.1:g.101182550A>G	GRCh37
NC_000013.9:g.99980551A>G	NCBI36
NG_008768.1:g.446214A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683975.1:c.*1834T>C (GGACT) MANE Select	ENSP00000508020.1:n.*1834T>C
ENST00000376285.6:c.*130A>G (PCCA) MANE Select	ENSP00000365462.1:n.*130A>G
ENST00000636366.1:c.1515A>G (PCCA)
ENST00000636475.1:c.1832A>G (PCCA)
ENST00000637657.1:c.1977A>G (PCCA)
ENST00000647303.1:c.*1801A>G (PCCA)	ENSP00000495663.1:n.*1801A>G
ENST00000376250.6:c.*1834T>C (GGACT)	ENSP00000365426.1:n.*1834T>C
ENST00000376279.7:c.*130A>G (PCCA)	ENSP00000365456.3:n.*130A>G
ENST00000376285.5:c.*130A>G (PCCA)	ENSP00000365462.1:n.*130A>G
ENST00000376286.8:c.*130A>G (PCCA)	ENSP00000365463.4:n.*130A>G
ENST00000428969.1:c.466A>G (PCCA)	ENSP00000399413.1:n.466A>G
ENST00000455100.2:c.*1834T>C (GGACT)	ENSP00000410449.1:n.*1834T>C
ENST00000458283.5:c.533A>G (PCCA)
NM_000282.3:c.*130A>G (PCCA)	NP_000273.2:n.*130A>G
NM_001127692.2:c.*130A>G (PCCA)	NP_001121164.1:n.*130A>G
NM_001178004.1:c.*130A>G (PCCA)	NP_001171475.1:n.*130A>G
NM_001195087.1:c.*1834T>C (GGACT)	NP_001182016.1:n.*1834T>C
NM_033110.2:c.*1834T>C (GGACT)	NP_149101.1:n.*1834T>C
XR_931615.1:n.2174A>G (PCCA)
NM_001352605.1:c.*130A>G (PCCA)	NP_001339534.1:n.*130A>G
NM_001352606.1:c.*130A>G (PCCA)	NP_001339535.1:n.*130A>G
NM_001352607.1:c.*130A>G (PCCA)	NP_001339536.1:n.*130A>G
NM_001352608.1:c.*130A>G (PCCA)	NP_001339537.1:n.*130A>G
NM_001352610.1:c.*130A>G (PCCA)	NP_001339539.1:n.*130A>G
NM_001352611.1:c.*130A>G (PCCA)	NP_001339540.1:n.*130A>G
NM_001352612.1:c.*130A>G (PCCA)	NP_001339541.1:n.*130A>G
NR_148027.1:n.2366A>G (PCCA)
NR_148028.1:n.2404A>G (PCCA)
NR_148029.1:n.2326A>G (PCCA)
NR_148030.1:n.2507A>G (PCCA)
NR_148031.1:n.2320A>G (PCCA)
XM_005254083.2:c.*1834T>C (GGACT)	XP_005254140.1:n.*1834T>C
XM_011521129.3:c.*1834T>C (GGACT)	XP_011519431.1:n.*1834T>C
XM_017020609.1:c.*130A>G (PCCA)	XP_016876098.1:n.*130A>G
XM_017020613.1:c.*245A>G (PCCA)	XP_016876102.1:n.*245A>G
XR_001749567.1:n.2497A>G (PCCA)
XR_001749568.1:n.2584A>G (PCCA)
XR_001749569.1:n.2443A>G (PCCA)
XR_001749576.1:n.2054A>G (PCCA)
XR_001749577.1:n.1951A>G (PCCA)
NM_000282.4:c.*130A>G (PCCA) MANE Select	NP_000273.2:n.*130A>G
NM_001352605.2:c.*130A>G (PCCA)	NP_001339534.1:n.*130A>G
NM_001352606.2:c.*130A>G (PCCA)	NP_001339535.1:n.*130A>G
NM_001352607.2:c.*130A>G (PCCA)	NP_001339536.1:n.*130A>G
NM_001352608.2:c.*130A>G (PCCA)	NP_001339537.1:n.*130A>G
NM_001352610.2:c.*130A>G (PCCA)	NP_001339539.1:n.*130A>G
NM_001352611.2:c.*130A>G (PCCA)	NP_001339540.1:n.*130A>G
NM_001352612.2:c.*130A>G (PCCA)	NP_001339541.1:n.*130A>G
NR_148027.2:n.2288A>G (PCCA)
NR_148028.2:n.2326A>G (PCCA)
NR_148029.2:n.2248A>G (PCCA)
NR_148030.2:n.2429A>G (PCCA)
NR_148031.2:n.2242A>G (PCCA)
NM_001127692.3:c.*130A>G (PCCA)	NP_001121164.1:n.*130A>G
NM_001178004.2:c.*130A>G (PCCA)	NP_001171475.1:n.*130A>G
NM_001195087.2:c.*1834T>C (GGACT) MANE Select	NP_001182016.1:n.*1834T>C
NM_033110.3:c.*1834T>C (GGACT)	NP_149101.1:n.*1834T>C