Canonical Allele Identifier: CA2786072985
Gene: NCS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130205034G>C , CM000671.2:g.130205034G>C GRCh38
NC_000009.11:g.132967313G>C , CM000671.1:g.132967313G>C GRCh37
NC_000009.10:g.132007134G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000372398.6:c.89+4052G>C MANE Select ENSP00000361475.3:n.89+4052G>C
ENST00000372398.5:c.89+4052G>C ENSP00000361475.3:n.89+4052G>C
ENST00000493042.1:n.143+4052G>C
ENST00000630865.1:c.35+4052G>C ENSP00000486695.1:n.35+4052G>C
NM_001128826.1:c.35+4052G>C NP_001122298.1:n.35+4052G>C
NM_014286.3:c.89+4052G>C NP_055101.2:n.89+4052G>C
NM_014286.4:c.89+4052G>C MANE Select NP_055101.2:n.89+4052G>C
NM_001128826.2:c.35+4052G>C NP_001122298.1:n.35+4052G>C