Canonical Allele Identifier: CA409248681

Gene: CTSA

Linked Data

• dbSNP Id: rs1278273855
• gnomAD v2: 20-44520650-A-C
• gnomAD v4: 20-45892011-A-C
• MyVariant Identifiers: chr20:g.44520650A>C (hg19) ; chr20:g.45892011A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45892011A>C , CM000682.2:g.45892011A>C	GRCh38
NC_000020.10:g.44520650A>C , CM000682.1:g.44520650A>C	GRCh37
NC_000020.9:g.43954057A>C	NCBI36
NG_008291.1:g.6060A>C
NG_033108.1:g.4277T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480961.3:n.707A>C
ENST00000484855.4:n.340A>C
ENST00000493522.8:n.318A>C
ENST00000606066.3:n.707A>C
ENST00000606782.3:n.166A>C
ENST00000607187.3:n.707A>C
ENST00000607212.3:n.501A>C
ENST00000607814.7:n.467A>C
ENST00000677755.2:n.391A>C
ENST00000678622.2:n.707A>C
ENST00000678691.2:n.707A>C
ENST00000678988.2:n.1329A>C
ENST00000679053.2:n.707A>C
ENST00000679343.2:n.707A>C
ENST00000684198.1:n.707A>C
ENST00000372459.7:c.290A>C	ENSP00000361537.2:p.Glu97Ala
ENST00000372484.8:c.344A>C	ENSP00000361562.3:p.Glu115Ala
ENST00000419493.3:c.290A>C	ENSP00000408533.3:p.Glu97Ala
ENST00000480961.2:n.317A>C
ENST00000484855.3:n.340A>C
ENST00000493522.7:n.318A>C
ENST00000606066.2:n.355A>C
ENST00000606394.6:c.248+249A>C	ENSP00000475827.1:n.248+249A>C
ENST00000606782.2:n.166A>C
ENST00000607187.2:n.221A>C
ENST00000607212.2:n.501A>C
ENST00000607482.6:c.290A>C	ENSP00000475524.2:p.Glu97Ala
ENST00000607814.6:n.467A>C
ENST00000646241.3:c.290A>C MANE Select	ENSP00000493613.2:p.Glu97Ala
ENST00000676526.1:c.344A>C	ENSP00000504209.1:p.Glu115Ala
ENST00000676597.1:c.290A>C	ENSP00000503904.1:p.Glu97Ala
ENST00000676657.1:c.290A>C	ENSP00000504158.1:p.Glu97Ala
ENST00000676967.1:c.290A>C	ENSP00000502866.1:p.Glu97Ala
ENST00000677394.1:c.344A>C	ENSP00000504790.1:p.Glu115Ala
ENST00000677525.1:c.*113A>C	ENSP00000504197.1:n.*113A>C
ENST00000677755.1:n.391A>C
ENST00000678025.1:c.290A>C	ENSP00000503463.1:p.Glu97Ala
ENST00000678078.1:c.344A>C	ENSP00000502993.1:p.Glu115Ala
ENST00000678217.1:c.290A>C	ENSP00000504109.1:p.Glu97Ala
ENST00000678331.1:c.290A>C	ENSP00000504524.1:p.Glu97Ala
ENST00000678443.1:c.290A>C	ENSP00000504006.1:p.Glu97Ala
ENST00000678512.1:n.480A>C
ENST00000678622.1:n.335A>C
ENST00000678691.1:n.168A>C
ENST00000678939.1:c.290A>C	ENSP00000503404.1:p.Glu97Ala
ENST00000678988.1:n.1329A>C
ENST00000679053.1:n.335A>C
ENST00000679343.1:n.328A>C
ENST00000191018.9:c.290A>C	ENSP00000191018.5:p.Glu97Ala
ENST00000354880.9:c.344A>C	ENSP00000346952.4:p.Glu115Ala
ENST00000372459.6:c.290A>C	ENSP00000361537.2:p.Glu97Ala
ENST00000372484.7:c.344A>C	ENSP00000361562.3:p.Glu115Ala
ENST00000606066.1:n.335A>C
ENST00000606394.5:c.248+249A>C	ENSP00000475827.1:n.248+249A>C
ENST00000606788.5:c.344A>C	ENSP00000476235.1:p.Glu115Ala
ENST00000607212.1:n.466A>C
ENST00000607482.5:c.290A>C	ENSP00000475524.1:p.Glu97Ala
ENST00000607814.5:n.468A>C
ENST00000607841.5:n.335A>C
NM_000308.2:c.344A>C	NP_000299.2:p.Glu115Ala
NM_000308.3:c.344A>C	NP_000299.2:p.Glu115Ala
NM_001127695.1:c.290A>C	NP_001121167.1:p.Glu97Ala
NM_001127695.2:c.290A>C	NP_001121167.1:p.Glu97Ala
NM_001167594.1:c.344A>C	NP_001161066.1:p.Glu115Ala
NM_001167594.2:c.344A>C	NP_001161066.1:p.Glu115Ala
NR_133656.1:n.1526A>C
NM_000308.4:c.290A>C MANE Select	NP_000299.3:p.Glu97Ala
NM_001127695.3:c.290A>C	NP_001121167.1:p.Glu97Ala
NM_001167594.3:c.290A>C	NP_001161066.2:p.Glu97Ala
NR_133656.2:n.335A>C