Canonical Allele Identifier: CA694164907

Gene: GGACT PCCA

Linked Data

• dbSNP Id: rs1421461379
• gnomAD v3: 13-100530239-C-G
• gnomAD v4: 13-100530239-C-G
• MyVariant Identifiers: chr13:g.101182493C>G (hg19) ; chr13:g.100530239C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530239C>G , CM000675.2:g.100530239C>G	GRCh38
NC_000013.10:g.101182493C>G , CM000675.1:g.101182493C>G	GRCh37
NC_000013.9:g.99980494C>G	NCBI36
NG_008768.1:g.446157C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683975.1:c.*1891G>C (GGACT) MANE Select	ENSP00000508020.1:n.*1891G>C
ENST00000376285.6:c.*73C>G (PCCA) MANE Select	ENSP00000365462.1:n.*73C>G
ENST00000636366.1:c.1458C>G (PCCA)
ENST00000636475.1:c.1775C>G (PCCA)
ENST00000637657.1:c.1920C>G (PCCA)
ENST00000647303.1:c.*1744C>G (PCCA)	ENSP00000495663.1:n.*1744C>G
ENST00000376250.6:c.*1891G>C (GGACT)	ENSP00000365426.1:n.*1891G>C
ENST00000376279.7:c.*73C>G (PCCA)	ENSP00000365456.3:n.*73C>G
ENST00000376285.5:c.*73C>G (PCCA)	ENSP00000365462.1:n.*73C>G
ENST00000376286.8:c.*73C>G (PCCA)	ENSP00000365463.4:n.*73C>G
ENST00000428969.1:c.409C>G (PCCA)	ENSP00000399413.1:n.409C>G
ENST00000455100.2:c.*1891G>C (GGACT)	ENSP00000410449.1:n.*1891G>C
ENST00000458283.5:c.476C>G (PCCA)
NM_000282.3:c.*73C>G (PCCA)	NP_000273.2:n.*73C>G
NM_001127692.2:c.*73C>G (PCCA)	NP_001121164.1:n.*73C>G
NM_001178004.1:c.*73C>G (PCCA)	NP_001171475.1:n.*73C>G
NM_001195087.1:c.*1891G>C (GGACT)	NP_001182016.1:n.*1891G>C
NM_033110.2:c.*1891G>C (GGACT)	NP_149101.1:n.*1891G>C
XR_931615.1:n.2117C>G (PCCA)
NM_001352605.1:c.*73C>G (PCCA)	NP_001339534.1:n.*73C>G
NM_001352606.1:c.*73C>G (PCCA)	NP_001339535.1:n.*73C>G
NM_001352607.1:c.*73C>G (PCCA)	NP_001339536.1:n.*73C>G
NM_001352608.1:c.*73C>G (PCCA)	NP_001339537.1:n.*73C>G
NM_001352610.1:c.*73C>G (PCCA)	NP_001339539.1:n.*73C>G
NM_001352611.1:c.*73C>G (PCCA)	NP_001339540.1:n.*73C>G
NM_001352612.1:c.*73C>G (PCCA)	NP_001339541.1:n.*73C>G
NR_148027.1:n.2309C>G (PCCA)
NR_148028.1:n.2347C>G (PCCA)
NR_148029.1:n.2269C>G (PCCA)
NR_148030.1:n.2450C>G (PCCA)
NR_148031.1:n.2263C>G (PCCA)
XM_005254083.2:c.*1891G>C (GGACT)	XP_005254140.1:n.*1891G>C
XM_011521129.3:c.*1891G>C (GGACT)	XP_011519431.1:n.*1891G>C
XM_017020609.1:c.*73C>G (PCCA)	XP_016876098.1:n.*73C>G
XM_017020613.1:c.*188C>G (PCCA)	XP_016876102.1:n.*188C>G
XR_001749567.1:n.2440C>G (PCCA)
XR_001749568.1:n.2527C>G (PCCA)
XR_001749569.1:n.2386C>G (PCCA)
XR_001749576.1:n.1997C>G (PCCA)
XR_001749577.1:n.1894C>G (PCCA)
NM_000282.4:c.*73C>G (PCCA) MANE Select	NP_000273.2:n.*73C>G
NM_001352605.2:c.*73C>G (PCCA)	NP_001339534.1:n.*73C>G
NM_001352606.2:c.*73C>G (PCCA)	NP_001339535.1:n.*73C>G
NM_001352607.2:c.*73C>G (PCCA)	NP_001339536.1:n.*73C>G
NM_001352608.2:c.*73C>G (PCCA)	NP_001339537.1:n.*73C>G
NM_001352610.2:c.*73C>G (PCCA)	NP_001339539.1:n.*73C>G
NM_001352611.2:c.*73C>G (PCCA)	NP_001339540.1:n.*73C>G
NM_001352612.2:c.*73C>G (PCCA)	NP_001339541.1:n.*73C>G
NR_148027.2:n.2231C>G (PCCA)
NR_148028.2:n.2269C>G (PCCA)
NR_148029.2:n.2191C>G (PCCA)
NR_148030.2:n.2372C>G (PCCA)
NR_148031.2:n.2185C>G (PCCA)
NM_001127692.3:c.*73C>G (PCCA)	NP_001121164.1:n.*73C>G
NM_001178004.2:c.*73C>G (PCCA)	NP_001171475.1:n.*73C>G
NM_001195087.2:c.*1891G>C (GGACT) MANE Select	NP_001182016.1:n.*1891G>C
NM_033110.3:c.*1891G>C (GGACT)	NP_149101.1:n.*1891G>C