Canonical Allele Identifier: CA409248629

Gene: CTSA

Linked Data

• ClinVar Variation Id: 932379
• ClinVar RCV Id: RCV001200149
• dbSNP Id: rs1986980461
• MyVariant Identifiers: chr20:g.44520625A>C (hg19) ; chr20:g.45891986A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45891986A>C , CM000682.2:g.45891986A>C	GRCh38
NC_000020.10:g.44520625A>C , CM000682.1:g.44520625A>C	GRCh37
NC_000020.9:g.43954032A>C	NCBI36
NG_008291.1:g.6035A>C
NG_033108.1:g.4302T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480961.3:n.682A>C
ENST00000484855.4:n.315A>C
ENST00000493522.8:n.293A>C
ENST00000606066.3:n.682A>C
ENST00000606782.3:n.141A>C
ENST00000607187.3:n.682A>C
ENST00000607212.3:n.476A>C
ENST00000607814.7:n.442A>C
ENST00000677755.2:n.366A>C
ENST00000678622.2:n.682A>C
ENST00000678691.2:n.682A>C
ENST00000678988.2:n.1304A>C
ENST00000679053.2:n.682A>C
ENST00000679343.2:n.682A>C
ENST00000684198.1:n.682A>C
ENST00000372459.7:c.265A>C	ENSP00000361537.2:p.Ser89Arg
ENST00000372484.8:c.319A>C	ENSP00000361562.3:p.Ser107Arg
ENST00000419493.3:c.265A>C	ENSP00000408533.3:p.Ser89Arg
ENST00000480961.2:n.292A>C
ENST00000484855.3:n.315A>C
ENST00000493522.7:n.293A>C
ENST00000606066.2:n.330A>C
ENST00000606394.6:c.248+224A>C	ENSP00000475827.1:n.248+224A>C
ENST00000606782.2:n.141A>C
ENST00000607187.2:n.196A>C
ENST00000607212.2:n.476A>C
ENST00000607482.6:c.265A>C	ENSP00000475524.2:p.Ser89Arg
ENST00000607814.6:n.442A>C
ENST00000646241.3:c.265A>C MANE Select	ENSP00000493613.2:p.Ser89Arg
ENST00000676526.1:c.319A>C	ENSP00000504209.1:p.Ser107Arg
ENST00000676597.1:c.265A>C	ENSP00000503904.1:p.Ser89Arg
ENST00000676657.1:c.265A>C	ENSP00000504158.1:p.Ser89Arg
ENST00000676967.1:c.265A>C	ENSP00000502866.1:p.Ser89Arg
ENST00000677394.1:c.319A>C	ENSP00000504790.1:p.Ser107Arg
ENST00000677525.1:c.*88A>C	ENSP00000504197.1:n.*88A>C
ENST00000677755.1:n.366A>C
ENST00000678025.1:c.265A>C	ENSP00000503463.1:p.Ser89Arg
ENST00000678078.1:c.319A>C	ENSP00000502993.1:p.Ser107Arg
ENST00000678217.1:c.265A>C	ENSP00000504109.1:p.Ser89Arg
ENST00000678331.1:c.265A>C	ENSP00000504524.1:p.Ser89Arg
ENST00000678443.1:c.265A>C	ENSP00000504006.1:p.Ser89Arg
ENST00000678512.1:n.455A>C
ENST00000678622.1:n.310A>C
ENST00000678691.1:n.143A>C
ENST00000678939.1:c.265A>C	ENSP00000503404.1:p.Ser89Arg
ENST00000678988.1:n.1304A>C
ENST00000679053.1:n.310A>C
ENST00000679343.1:n.303A>C
ENST00000191018.9:c.265A>C	ENSP00000191018.5:p.Ser89Arg
ENST00000354880.9:c.319A>C	ENSP00000346952.4:p.Ser107Arg
ENST00000372459.6:c.265A>C	ENSP00000361537.2:p.Ser89Arg
ENST00000372484.7:c.319A>C	ENSP00000361562.3:p.Ser107Arg
ENST00000606066.1:n.310A>C
ENST00000606394.5:c.248+224A>C	ENSP00000475827.1:n.248+224A>C
ENST00000606788.5:c.319A>C	ENSP00000476235.1:p.Ser107Arg
ENST00000607212.1:n.441A>C
ENST00000607482.5:c.265A>C	ENSP00000475524.1:p.Ser89Arg
ENST00000607814.5:n.443A>C
ENST00000607841.5:n.310A>C
NM_000308.2:c.319A>C	NP_000299.2:p.Ser107Arg
NM_000308.3:c.319A>C	NP_000299.2:p.Ser107Arg
NM_001127695.1:c.265A>C	NP_001121167.1:p.Ser89Arg
NM_001127695.2:c.265A>C	NP_001121167.1:p.Ser89Arg
NM_001167594.1:c.319A>C	NP_001161066.1:p.Ser107Arg
NM_001167594.2:c.319A>C	NP_001161066.1:p.Ser107Arg
NR_133656.1:n.1501A>C
NM_000308.4:c.265A>C MANE Select	NP_000299.3:p.Ser89Arg
NM_001127695.3:c.265A>C	NP_001121167.1:p.Ser89Arg
NM_001167594.3:c.265A>C	NP_001161066.2:p.Ser89Arg
NR_133656.2:n.310A>C