Canonical Allele Identifier: CA10391402
Gene: NDP HGNC NCBI
NDP-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 377374
ClinVar RCV Id: RCV000441399
dbSNP Id: rs756474198
ExAC: X:43809062 C / T
gnomAD v2: X-43809062-C-T
gnomAD v3: X-43949816-C-T
gnomAD v4: X-43949816-C-T
COSMIC: COSM5966147
MyVariant Identifiers: chrX:g.43809062C>T (hg19) chrX:g.43949816C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949816C>T , CM000685.2:g.43949816C>T GRCh38
NC_000023.10:g.43809062C>T , CM000685.1:g.43809062C>T GRCh37
NC_000023.9:g.43694006C>T NCBI36
NG_009832.1:g.28860G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.385G>A (NDP) MANE Select ENSP00000495972.1:p.Glu129Lys
ENST00000647044.1:c.385G>A (NDP) ENSP00000495811.1:p.Glu129Lys
ENST00000378062.5:c.385G>A (NDP) ENSP00000367301.5:p.Glu129Lys
ENST00000470584.1:n.429G>A (NDP)
NM_000266.3:c.385G>A (NDP) NP_000257.1:p.Glu129Lys
NR_046631.1:n.85C>T (NDP-AS1)
NM_000266.4:c.385G>A (NDP) MANE Select NP_000257.1:p.Glu129Lys
Search 100 bp 5'
Search 100 bp 3'