Canonical Allele Identifier: CA590918792
Gene: NCS1 HGNC NCBI

Linked Data

dbSNP Id: rs1332244877
gnomAD v2: 9-132967315-C-T
gnomAD v3: 9-130205036-C-T
gnomAD v4: 9-130205036-C-T
MyVariant Identifiers: chr9:g.132967315C>T (hg19) chr9:g.130205036C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130205036C>T , CM000671.2:g.130205036C>T GRCh38
NC_000009.11:g.132967315C>T , CM000671.1:g.132967315C>T GRCh37
NC_000009.10:g.132007136C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000372398.6:c.89+4054C>T MANE Select ENSP00000361475.3:n.89+4054C>T
ENST00000372398.5:c.89+4054C>T ENSP00000361475.3:n.89+4054C>T
ENST00000493042.1:n.143+4054C>T
ENST00000630865.1:c.35+4054C>T ENSP00000486695.1:n.35+4054C>T
NM_001128826.1:c.35+4054C>T NP_001122298.1:n.35+4054C>T
NM_014286.3:c.89+4054C>T NP_055101.2:n.89+4054C>T
NM_014286.4:c.89+4054C>T MANE Select NP_055101.2:n.89+4054C>T
NM_001128826.2:c.35+4054C>T NP_001122298.1:n.35+4054C>T
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