Canonical Allele Identifier: CA255473
Gene: NDP HGNC NCBI
NDP-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10686
ClinVar RCV Id: RCV000011432 RCV000418772
dbSNP Id: rs104894873
gnomAD v4: X-43949817-G-T
MyVariant Identifiers: chrX:g.43809063G>T (hg19) chrX:g.43949817G>T (hg38)
PubMed: PMID:8240113
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949817G>T , CM000685.2:g.43949817G>T GRCh38
NC_000023.10:g.43809063G>T , CM000685.1:g.43809063G>T GRCh37
NC_000023.9:g.43694007G>T NCBI36
NG_009832.1:g.28859C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.384C>A (NDP) MANE Select ENSP00000495972.1:p.Cys128Ter
ENST00000647044.1:c.384C>A (NDP) ENSP00000495811.1:p.Cys128Ter
ENST00000378062.5:c.384C>A (NDP) ENSP00000367301.5:p.Cys128Ter
ENST00000470584.1:n.428C>A (NDP)
NM_000266.3:c.384C>A (NDP) NP_000257.1:p.Cys128Ter
NR_046631.1:n.86G>T (NDP-AS1)
NM_000266.4:c.384C>A (NDP) MANE Select NP_000257.1:p.Cys128Ter
Search 100 bp 5'
Search 100 bp 3'