Canonical Allele Identifier: CA413007259
Gene: NDP HGNC NCBI
NDP-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2430453
ClinVar RCV Id: RCV003129023
gnomAD v4: X-43949813-C-A
MyVariant Identifiers: chrX:g.43809059C>A (hg19) chrX:g.43949813C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949813C>A , CM000685.2:g.43949813C>A GRCh38
NC_000023.10:g.43809059C>A , CM000685.1:g.43809059C>A GRCh37
NC_000023.9:g.43694003C>A NCBI36
NG_009832.1:g.28863G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.388G>T (NDP) MANE Select ENSP00000495972.1:p.Glu130Ter
ENST00000647044.1:c.388G>T (NDP) ENSP00000495811.1:p.Glu130Ter
ENST00000378062.5:c.388G>T (NDP) ENSP00000367301.5:p.Glu130Ter
ENST00000470584.1:n.432G>T (NDP)
NM_000266.3:c.388G>T (NDP) NP_000257.1:p.Glu130Ter
NR_046631.1:n.82C>A (NDP-AS1)
NM_000266.4:c.388G>T (NDP) MANE Select NP_000257.1:p.Glu130Ter
Search 100 bp 5'
Search 100 bp 3'