Canonical Allele Identifier: CA409248704

Gene: CTSA

Linked Data

• gnomAD v4: 20-45892020-C-A
• COSMIC: COSM3673125
• MyVariant Identifiers: chr20:g.44520659C>A (hg19) ; chr20:g.45892020C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45892020C>A , CM000682.2:g.45892020C>A	GRCh38
NC_000020.10:g.44520659C>A , CM000682.1:g.44520659C>A	GRCh37
NC_000020.9:g.43954066C>A	NCBI36
NG_008291.1:g.6069C>A
NG_033108.1:g.4268G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480961.3:n.716C>A
ENST00000484855.4:n.349C>A
ENST00000493522.8:n.327C>A
ENST00000606066.3:n.716C>A
ENST00000606782.3:n.175C>A
ENST00000607187.3:n.716C>A
ENST00000607212.3:n.510C>A
ENST00000607814.7:n.476C>A
ENST00000677755.2:n.400C>A
ENST00000678622.2:n.716C>A
ENST00000678691.2:n.716C>A
ENST00000678988.2:n.1338C>A
ENST00000679053.2:n.716C>A
ENST00000679343.2:n.716C>A
ENST00000684198.1:n.716C>A
ENST00000372459.7:c.299C>A	ENSP00000361537.2:p.Pro100His
ENST00000372484.8:c.353C>A	ENSP00000361562.3:p.Pro118His
ENST00000419493.3:c.299C>A	ENSP00000408533.3:p.Pro100His
ENST00000480961.2:n.326C>A
ENST00000484855.3:n.349C>A
ENST00000493522.7:n.327C>A
ENST00000606066.2:n.364C>A
ENST00000606394.6:c.248+258C>A	ENSP00000475827.1:n.248+258C>A
ENST00000606782.2:n.175C>A
ENST00000607187.2:n.230C>A
ENST00000607212.2:n.510C>A
ENST00000607482.6:c.299C>A	ENSP00000475524.2:p.Pro100His
ENST00000607814.6:n.476C>A
ENST00000646241.3:c.299C>A MANE Select	ENSP00000493613.2:p.Pro100His
ENST00000676526.1:c.353C>A	ENSP00000504209.1:p.Pro118His
ENST00000676597.1:c.299C>A	ENSP00000503904.1:p.Pro100His
ENST00000676657.1:c.299C>A	ENSP00000504158.1:p.Pro100His
ENST00000676967.1:c.299C>A	ENSP00000502866.1:p.Pro100His
ENST00000677394.1:c.353C>A	ENSP00000504790.1:p.Pro118His
ENST00000677525.1:c.*122C>A	ENSP00000504197.1:n.*122C>A
ENST00000677755.1:n.400C>A
ENST00000678025.1:c.299C>A	ENSP00000503463.1:p.Pro100His
ENST00000678078.1:c.353C>A	ENSP00000502993.1:p.Pro118His
ENST00000678217.1:c.299C>A	ENSP00000504109.1:p.Pro100His
ENST00000678331.1:c.299C>A	ENSP00000504524.1:p.Pro100His
ENST00000678443.1:c.299C>A	ENSP00000504006.1:p.Pro100His
ENST00000678512.1:n.489C>A
ENST00000678622.1:n.344C>A
ENST00000678691.1:n.177C>A
ENST00000678939.1:c.299C>A	ENSP00000503404.1:p.Pro100His
ENST00000678988.1:n.1338C>A
ENST00000679053.1:n.344C>A
ENST00000679343.1:n.337C>A
ENST00000191018.9:c.299C>A	ENSP00000191018.5:p.Pro100His
ENST00000354880.9:c.353C>A	ENSP00000346952.4:p.Pro118His
ENST00000372459.6:c.299C>A	ENSP00000361537.2:p.Pro100His
ENST00000372484.7:c.353C>A	ENSP00000361562.3:p.Pro118His
ENST00000606066.1:n.344C>A
ENST00000606394.5:c.248+258C>A	ENSP00000475827.1:n.248+258C>A
ENST00000606788.5:c.353C>A	ENSP00000476235.1:p.Pro118His
ENST00000607212.1:n.475C>A
ENST00000607482.5:c.299C>A	ENSP00000475524.1:p.Pro100His
ENST00000607814.5:n.477C>A
ENST00000607841.5:n.344C>A
NM_000308.2:c.353C>A	NP_000299.2:p.Pro118His
NM_000308.3:c.353C>A	NP_000299.2:p.Pro118His
NM_001127695.1:c.299C>A	NP_001121167.1:p.Pro100His
NM_001127695.2:c.299C>A	NP_001121167.1:p.Pro100His
NM_001167594.1:c.353C>A	NP_001161066.1:p.Pro118His
NM_001167594.2:c.353C>A	NP_001161066.1:p.Pro118His
NR_133656.1:n.1535C>A
NM_000308.4:c.299C>A MANE Select	NP_000299.3:p.Pro100His
NM_001127695.3:c.299C>A	NP_001121167.1:p.Pro100His
NM_001167594.3:c.299C>A	NP_001161066.2:p.Pro100His
NR_133656.2:n.344C>A