Canonical Allele Identifier: CA255473

Gene: NDP NDP-AS1

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

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