Canonical Allele Identifier: CA10653144
Gene: CTSA HGNC NCBI
NEURL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 338518
ClinVar RCV Id: RCV000324157
dbSNP Id: rs558829056
gnomAD v2: 20-44519731-C-G
gnomAD v3: 20-45891092-C-G
gnomAD v4: 20-45891092-C-G
MyVariant Identifiers: chr20:g.44519731C>G (hg19) chr20:g.45891092C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45891092C>G , CM000682.2:g.45891092C>G GRCh38
NC_000020.10:g.44519731C>G , CM000682.1:g.44519731C>G GRCh37
NC_000020.9:g.43953138C>G NCBI36
NG_008291.1:g.5141C>G
NG_033108.1:g.5196G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000480961.3:n.130C>G (CTSA)
ENST00000606066.3:n.130C>G (CTSA)
ENST00000607187.3:n.130C>G (CTSA)
ENST00000678622.2:n.130C>G (CTSA)
ENST00000678691.2:n.130C>G (CTSA)
ENST00000678988.2:n.752C>G (CTSA)
ENST00000679053.2:n.130C>G (CTSA)
ENST00000679343.2:n.130C>G (CTSA)
ENST00000684198.1:n.130C>G (CTSA)
ENST00000372484.8:c.-234C>G (CTSA) ENSP00000361562.3:n.-234C>G
ENST00000372518.5:c.-101G>C (NEURL2) MANE Select ENSP00000361596.4:n.-101G>C
ENST00000676526.1:c.-234C>G (CTSA) ENSP00000504209.1:n.-234C>G
ENST00000677394.1:c.-154+21C>G (CTSA) ENSP00000504790.1:n.-154+21C>G
ENST00000678078.1:c.-234C>G (CTSA) ENSP00000502993.1:n.-234C>G
ENST00000678988.1:n.752C>G (CTSA)
ENST00000372484.7:c.-234C>G (CTSA) ENSP00000361562.3:n.-234C>G
ENST00000372518.4:c.-101G>C (NEURL2) ENSP00000361596.4:n.-101G>C
ENST00000606788.5:c.-234C>G (CTSA) ENSP00000476235.1:n.-234C>G
NM_000308.2:c.-234C>G (CTSA) NP_000299.2:n.-234C>G
NM_000308.3:c.-234C>G (CTSA) NP_000299.2:n.-234C>G
NM_001127695.1:c.-334C>G (CTSA) NP_001121167.1:n.-334C>G
NM_001127695.2:c.-334C>G (CTSA) NP_001121167.1:n.-334C>G
NM_001167594.1:c.-234C>G (CTSA) NP_001161066.1:n.-234C>G
NM_001167594.2:c.-234C>G (CTSA) NP_001161066.1:n.-234C>G
NM_001278535.1:c.-101G>C (NEURL2) NP_001265464.1:n.-101G>C
NM_080749.3:c.-101G>C (NEURL2) NP_542787.1:n.-101G>C
NR_133656.1:n.949C>G (CTSA)
NM_001278535.2:c.-101G>C (NEURL2) NP_001265464.1:n.-101G>C
NM_080749.4:c.-101G>C (NEURL2) MANE Select NP_542787.1:n.-101G>C
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