Canonical Allele Identifier: CA2623563080

Gene: GGACT PCCA

Linked Data

• gnomAD v4: 13-100530253-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530253G>A , CM000675.2:g.100530253G>A	GRCh38
NC_000013.10:g.101182507G>A , CM000675.1:g.101182507G>A	GRCh37
NC_000013.9:g.99980508G>A	NCBI36
NG_008768.1:g.446171G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683975.1:c.*1877C>T (GGACT) MANE Select	ENSP00000508020.1:n.*1877C>T
ENST00000376285.6:c.*87G>A (PCCA) MANE Select	ENSP00000365462.1:n.*87G>A
ENST00000636366.1:c.1472G>A (PCCA)
ENST00000636475.1:c.1789G>A (PCCA)
ENST00000637657.1:c.1934G>A (PCCA)
ENST00000647303.1:c.*1758G>A (PCCA)	ENSP00000495663.1:n.*1758G>A
ENST00000376250.6:c.*1877C>T (GGACT)	ENSP00000365426.1:n.*1877C>T
ENST00000376279.7:c.*87G>A (PCCA)	ENSP00000365456.3:n.*87G>A
ENST00000376285.5:c.*87G>A (PCCA)	ENSP00000365462.1:n.*87G>A
ENST00000376286.8:c.*87G>A (PCCA)	ENSP00000365463.4:n.*87G>A
ENST00000428969.1:c.423G>A (PCCA)	ENSP00000399413.1:n.423G>A
ENST00000455100.2:c.*1877C>T (GGACT)	ENSP00000410449.1:n.*1877C>T
ENST00000458283.5:c.490G>A (PCCA)
NM_000282.3:c.*87G>A (PCCA)	NP_000273.2:n.*87G>A
NM_001127692.2:c.*87G>A (PCCA)	NP_001121164.1:n.*87G>A
NM_001178004.1:c.*87G>A (PCCA)	NP_001171475.1:n.*87G>A
NM_001195087.1:c.*1877C>T (GGACT)	NP_001182016.1:n.*1877C>T
NM_033110.2:c.*1877C>T (GGACT)	NP_149101.1:n.*1877C>T
XR_931615.1:n.2131G>A (PCCA)
NM_001352605.1:c.*87G>A (PCCA)	NP_001339534.1:n.*87G>A
NM_001352606.1:c.*87G>A (PCCA)	NP_001339535.1:n.*87G>A
NM_001352607.1:c.*87G>A (PCCA)	NP_001339536.1:n.*87G>A
NM_001352608.1:c.*87G>A (PCCA)	NP_001339537.1:n.*87G>A
NM_001352610.1:c.*87G>A (PCCA)	NP_001339539.1:n.*87G>A
NM_001352611.1:c.*87G>A (PCCA)	NP_001339540.1:n.*87G>A
NM_001352612.1:c.*87G>A (PCCA)	NP_001339541.1:n.*87G>A
NR_148027.1:n.2323G>A (PCCA)
NR_148028.1:n.2361G>A (PCCA)
NR_148029.1:n.2283G>A (PCCA)
NR_148030.1:n.2464G>A (PCCA)
NR_148031.1:n.2277G>A (PCCA)
XM_005254083.2:c.*1877C>T (GGACT)	XP_005254140.1:n.*1877C>T
XM_011521129.3:c.*1877C>T (GGACT)	XP_011519431.1:n.*1877C>T
XM_017020609.1:c.*87G>A (PCCA)	XP_016876098.1:n.*87G>A
XM_017020613.1:c.*202G>A (PCCA)	XP_016876102.1:n.*202G>A
XR_001749567.1:n.2454G>A (PCCA)
XR_001749568.1:n.2541G>A (PCCA)
XR_001749569.1:n.2400G>A (PCCA)
XR_001749576.1:n.2011G>A (PCCA)
XR_001749577.1:n.1908G>A (PCCA)
NM_000282.4:c.*87G>A (PCCA) MANE Select	NP_000273.2:n.*87G>A
NM_001352605.2:c.*87G>A (PCCA)	NP_001339534.1:n.*87G>A
NM_001352606.2:c.*87G>A (PCCA)	NP_001339535.1:n.*87G>A
NM_001352607.2:c.*87G>A (PCCA)	NP_001339536.1:n.*87G>A
NM_001352608.2:c.*87G>A (PCCA)	NP_001339537.1:n.*87G>A
NM_001352610.2:c.*87G>A (PCCA)	NP_001339539.1:n.*87G>A
NM_001352611.2:c.*87G>A (PCCA)	NP_001339540.1:n.*87G>A
NM_001352612.2:c.*87G>A (PCCA)	NP_001339541.1:n.*87G>A
NR_148027.2:n.2245G>A (PCCA)
NR_148028.2:n.2283G>A (PCCA)
NR_148029.2:n.2205G>A (PCCA)
NR_148030.2:n.2386G>A (PCCA)
NR_148031.2:n.2199G>A (PCCA)
NM_001127692.3:c.*87G>A (PCCA)	NP_001121164.1:n.*87G>A
NM_001178004.2:c.*87G>A (PCCA)	NP_001171475.1:n.*87G>A
NM_001195087.2:c.*1877C>T (GGACT) MANE Select	NP_001182016.1:n.*1877C>T
NM_033110.3:c.*1877C>T (GGACT)	NP_149101.1:n.*1877C>T