Canonical Allele Identifier: CA413007980
Gene: NDP HGNC NCBI
NDP-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1373872
ClinVar RCV Id: RCV001877536
dbSNP Id: rs2147204853
MyVariant Identifiers: chrX:g.43809248C>T (hg19) chrX:g.43950002C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43950002C>T , CM000685.2:g.43950002C>T GRCh38
NC_000023.10:g.43809248C>T , CM000685.1:g.43809248C>T GRCh37
NC_000023.9:g.43694192C>T NCBI36
NG_009832.1:g.28674G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.199G>A (NDP) MANE Select ENSP00000495972.1:p.Gly67Arg
ENST00000647044.1:c.199G>A (NDP) ENSP00000495811.1:p.Gly67Arg
ENST00000378062.5:c.199G>A (NDP) ENSP00000367301.5:p.Gly67Arg
ENST00000470584.1:n.243G>A (NDP)
NM_000266.3:c.199G>A (NDP) NP_000257.1:p.Gly67Arg
NR_046631.1:n.271C>T (NDP-AS1)
NM_000266.4:c.199G>A (NDP) MANE Select NP_000257.1:p.Gly67Arg
Search 100 bp 5'
Search 100 bp 3'