Canonical Allele Identifier: CA6162860
Gene: NADSYN1 HGNC NCBI
COSMIC:
COSM3998565 (not active)
MyVariant.info:
GRCh38 chr11:g.71458501G>C
GRCh37 chr11:g.71169547G>C
Revel Score:
ENST00000319023 (MANE Select) 0.467
gnomAD v2:
11:71169547 G / C
gnomAD v3:
11:71458501 G / C
gnomAD v4:
chr11-71458501-G-C
Joint Max Group AF 0.7685296 (NFE)
Genomes Max Group AF 0.73839668 (NFE)
Exomes Max Group AF 0.77008097 (NFE)
ClinVar RCV:
RCV001652036
RCV001779284
ClinVar Variation:
1248202
dbSNP:
2276360
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71458501G>C , CM000673.2:g.71458501G>C GRCh38
NC_000011.9:g.71169547G>C , CM000673.1:g.71169547G>C GRCh37
NC_000011.8:g.70847195G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000319023.7:c.220G>C MANE Select ENSP00000326424.2:p.Val74Leu
ENST00000319023.6:c.220G>C ENSP00000326424.2:p.Val74Leu
ENST00000524949.5:n.286G>C
ENST00000525200.5:c.120G>C
ENST00000525245.1:n.161G>C
ENST00000527538.5:n.276G>C
ENST00000528509.5:c.220G>C ENSP00000433472.1:p.Val74Leu
ENST00000529120.5:c.220G>C ENSP00000437220.1:p.Val74Leu
ENST00000533769.5:n.286G>C
ENST00000534634.5:n.408G>C
NM_018161.4:c.220G>C NP_060631.2:p.Val74Leu
NM_018161.5:c.220G>C MANE Select NP_060631.2:p.Val74Leu
Search 100 bp 5'
Search 100 bp 3'