Canonical Allele Identifier: CA413007843
Gene: NDP HGNC NCBI
NDP-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1045707
ClinVar RCV Id: RCV001350165
dbSNP Id: rs1176378943
gnomAD v4: X-43949975-C-T
COSMIC: COSM1121522
MyVariant Identifiers: chrX:g.43809221C>T (hg19) chrX:g.43949975C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949975C>T , CM000685.2:g.43949975C>T GRCh38
NC_000023.10:g.43809221C>T , CM000685.1:g.43809221C>T GRCh37
NC_000023.9:g.43694165C>T NCBI36
NG_009832.1:g.28701G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.226G>A (NDP) MANE Select ENSP00000495972.1:p.Glu76Lys
ENST00000647044.1:c.226G>A (NDP) ENSP00000495811.1:p.Glu76Lys
ENST00000378062.5:c.226G>A (NDP) ENSP00000367301.5:p.Glu76Lys
ENST00000470584.1:n.270G>A (NDP)
NM_000266.3:c.226G>A (NDP) NP_000257.1:p.Glu76Lys
NR_046631.1:n.244C>T (NDP-AS1)
NM_000266.4:c.226G>A (NDP) MANE Select NP_000257.1:p.Glu76Lys
Search 100 bp 5'
Search 100 bp 3'