Canonical Allele Identifier: CA409248626

Gene: CTSA

Linked Data

• MyVariant Identifiers: chr20:g.44520623G>T (hg19) ; chr20:g.45891984G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45891984G>T , CM000682.2:g.45891984G>T	GRCh38
NC_000020.10:g.44520623G>T , CM000682.1:g.44520623G>T	GRCh37
NC_000020.9:g.43954030G>T	NCBI36
NG_008291.1:g.6033G>T
NG_033108.1:g.4304C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480961.3:n.680G>T
ENST00000484855.4:n.313G>T
ENST00000493522.8:n.291G>T
ENST00000606066.3:n.680G>T
ENST00000606782.3:n.139G>T
ENST00000607187.3:n.680G>T
ENST00000607212.3:n.474G>T
ENST00000607814.7:n.440G>T
ENST00000677755.2:n.364G>T
ENST00000678622.2:n.680G>T
ENST00000678691.2:n.680G>T
ENST00000678988.2:n.1302G>T
ENST00000679053.2:n.680G>T
ENST00000679343.2:n.680G>T
ENST00000684198.1:n.680G>T
ENST00000372459.7:c.263G>T	ENSP00000361537.2:p.Cys88Phe
ENST00000372484.8:c.317G>T	ENSP00000361562.3:p.Cys106Phe
ENST00000419493.3:c.263G>T	ENSP00000408533.3:p.Cys88Phe
ENST00000480961.2:n.290G>T
ENST00000484855.3:n.313G>T
ENST00000493522.7:n.291G>T
ENST00000606066.2:n.328G>T
ENST00000606394.6:c.248+222G>T	ENSP00000475827.1:n.248+222G>T
ENST00000606782.2:n.139G>T
ENST00000607187.2:n.194G>T
ENST00000607212.2:n.474G>T
ENST00000607482.6:c.263G>T	ENSP00000475524.2:p.Cys88Phe
ENST00000607814.6:n.440G>T
ENST00000646241.3:c.263G>T MANE Select	ENSP00000493613.2:p.Cys88Phe
ENST00000676526.1:c.317G>T	ENSP00000504209.1:p.Cys106Phe
ENST00000676597.1:c.263G>T	ENSP00000503904.1:p.Cys88Phe
ENST00000676657.1:c.263G>T	ENSP00000504158.1:p.Cys88Phe
ENST00000676967.1:c.263G>T	ENSP00000502866.1:p.Cys88Phe
ENST00000677394.1:c.317G>T	ENSP00000504790.1:p.Cys106Phe
ENST00000677525.1:c.*86G>T	ENSP00000504197.1:n.*86G>T
ENST00000677755.1:n.364G>T
ENST00000678025.1:c.263G>T	ENSP00000503463.1:p.Cys88Phe
ENST00000678078.1:c.317G>T	ENSP00000502993.1:p.Cys106Phe
ENST00000678217.1:c.263G>T	ENSP00000504109.1:p.Cys88Phe
ENST00000678331.1:c.263G>T	ENSP00000504524.1:p.Cys88Phe
ENST00000678443.1:c.263G>T	ENSP00000504006.1:p.Cys88Phe
ENST00000678512.1:n.453G>T
ENST00000678622.1:n.308G>T
ENST00000678691.1:n.141G>T
ENST00000678939.1:c.263G>T	ENSP00000503404.1:p.Cys88Phe
ENST00000678988.1:n.1302G>T
ENST00000679053.1:n.308G>T
ENST00000679343.1:n.301G>T
ENST00000191018.9:c.263G>T	ENSP00000191018.5:p.Cys88Phe
ENST00000354880.9:c.317G>T	ENSP00000346952.4:p.Cys106Phe
ENST00000372459.6:c.263G>T	ENSP00000361537.2:p.Cys88Phe
ENST00000372484.7:c.317G>T	ENSP00000361562.3:p.Cys106Phe
ENST00000606066.1:n.308G>T
ENST00000606394.5:c.248+222G>T	ENSP00000475827.1:n.248+222G>T
ENST00000606788.5:c.317G>T	ENSP00000476235.1:p.Cys106Phe
ENST00000607212.1:n.439G>T
ENST00000607482.5:c.263G>T	ENSP00000475524.1:p.Cys88Phe
ENST00000607814.5:n.441G>T
ENST00000607841.5:n.308G>T
NM_000308.2:c.317G>T	NP_000299.2:p.Cys106Phe
NM_000308.3:c.317G>T	NP_000299.2:p.Cys106Phe
NM_001127695.1:c.263G>T	NP_001121167.1:p.Cys88Phe
NM_001127695.2:c.263G>T	NP_001121167.1:p.Cys88Phe
NM_001167594.1:c.317G>T	NP_001161066.1:p.Cys106Phe
NM_001167594.2:c.317G>T	NP_001161066.1:p.Cys106Phe
NR_133656.1:n.1499G>T
NM_000308.4:c.263G>T MANE Select	NP_000299.3:p.Cys88Phe
NM_001127695.3:c.263G>T	NP_001121167.1:p.Cys88Phe
NM_001167594.3:c.263G>T	NP_001161066.2:p.Cys88Phe
NR_133656.2:n.308G>T