Canonical Allele Identifier: CA2114131445

Gene: GGACT PCCA

Linked Data

• dbSNP Id: rs2088308732
• gnomAD v4: 13-100530273-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530273G>A , CM000675.2:g.100530273G>A	GRCh38
NC_000013.10:g.101182527G>A , CM000675.1:g.101182527G>A	GRCh37
NC_000013.9:g.99980528G>A	NCBI36
NG_008768.1:g.446191G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683975.1:c.*1857C>T (GGACT) MANE Select	ENSP00000508020.1:n.*1857C>T
ENST00000376285.6:c.*107G>A (PCCA) MANE Select	ENSP00000365462.1:n.*107G>A
ENST00000636366.1:c.1492G>A (PCCA)
ENST00000636475.1:c.1809G>A (PCCA)
ENST00000637657.1:c.1954G>A (PCCA)
ENST00000647303.1:c.*1778G>A (PCCA)	ENSP00000495663.1:n.*1778G>A
ENST00000376250.6:c.*1857C>T (GGACT)	ENSP00000365426.1:n.*1857C>T
ENST00000376279.7:c.*107G>A (PCCA)	ENSP00000365456.3:n.*107G>A
ENST00000376285.5:c.*107G>A (PCCA)	ENSP00000365462.1:n.*107G>A
ENST00000376286.8:c.*107G>A (PCCA)	ENSP00000365463.4:n.*107G>A
ENST00000428969.1:c.443G>A (PCCA)	ENSP00000399413.1:n.443G>A
ENST00000455100.2:c.*1857C>T (GGACT)	ENSP00000410449.1:n.*1857C>T
ENST00000458283.5:c.510G>A (PCCA)
NM_000282.3:c.*107G>A (PCCA)	NP_000273.2:n.*107G>A
NM_001127692.2:c.*107G>A (PCCA)	NP_001121164.1:n.*107G>A
NM_001178004.1:c.*107G>A (PCCA)	NP_001171475.1:n.*107G>A
NM_001195087.1:c.*1857C>T (GGACT)	NP_001182016.1:n.*1857C>T
NM_033110.2:c.*1857C>T (GGACT)	NP_149101.1:n.*1857C>T
XR_931615.1:n.2151G>A (PCCA)
NM_001352605.1:c.*107G>A (PCCA)	NP_001339534.1:n.*107G>A
NM_001352606.1:c.*107G>A (PCCA)	NP_001339535.1:n.*107G>A
NM_001352607.1:c.*107G>A (PCCA)	NP_001339536.1:n.*107G>A
NM_001352608.1:c.*107G>A (PCCA)	NP_001339537.1:n.*107G>A
NM_001352610.1:c.*107G>A (PCCA)	NP_001339539.1:n.*107G>A
NM_001352611.1:c.*107G>A (PCCA)	NP_001339540.1:n.*107G>A
NM_001352612.1:c.*107G>A (PCCA)	NP_001339541.1:n.*107G>A
NR_148027.1:n.2343G>A (PCCA)
NR_148028.1:n.2381G>A (PCCA)
NR_148029.1:n.2303G>A (PCCA)
NR_148030.1:n.2484G>A (PCCA)
NR_148031.1:n.2297G>A (PCCA)
XM_005254083.2:c.*1857C>T (GGACT)	XP_005254140.1:n.*1857C>T
XM_011521129.3:c.*1857C>T (GGACT)	XP_011519431.1:n.*1857C>T
XM_017020609.1:c.*107G>A (PCCA)	XP_016876098.1:n.*107G>A
XM_017020613.1:c.*222G>A (PCCA)	XP_016876102.1:n.*222G>A
XR_001749567.1:n.2474G>A (PCCA)
XR_001749568.1:n.2561G>A (PCCA)
XR_001749569.1:n.2420G>A (PCCA)
XR_001749576.1:n.2031G>A (PCCA)
XR_001749577.1:n.1928G>A (PCCA)
NM_000282.4:c.*107G>A (PCCA) MANE Select	NP_000273.2:n.*107G>A
NM_001352605.2:c.*107G>A (PCCA)	NP_001339534.1:n.*107G>A
NM_001352606.2:c.*107G>A (PCCA)	NP_001339535.1:n.*107G>A
NM_001352607.2:c.*107G>A (PCCA)	NP_001339536.1:n.*107G>A
NM_001352608.2:c.*107G>A (PCCA)	NP_001339537.1:n.*107G>A
NM_001352610.2:c.*107G>A (PCCA)	NP_001339539.1:n.*107G>A
NM_001352611.2:c.*107G>A (PCCA)	NP_001339540.1:n.*107G>A
NM_001352612.2:c.*107G>A (PCCA)	NP_001339541.1:n.*107G>A
NR_148027.2:n.2265G>A (PCCA)
NR_148028.2:n.2303G>A (PCCA)
NR_148029.2:n.2225G>A (PCCA)
NR_148030.2:n.2406G>A (PCCA)
NR_148031.2:n.2219G>A (PCCA)
NM_001127692.3:c.*107G>A (PCCA)	NP_001121164.1:n.*107G>A
NM_001178004.2:c.*107G>A (PCCA)	NP_001171475.1:n.*107G>A
NM_001195087.2:c.*1857C>T (GGACT) MANE Select	NP_001182016.1:n.*1857C>T
NM_033110.3:c.*1857C>T (GGACT)	NP_149101.1:n.*1857C>T