Canonical Allele Identifier: CA255469
Gene: NDP HGNC NCBI
NDP-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10682
ClinVar RCV Id: RCV000011428 RCV001857330
dbSNP Id: rs104894870
COSMIC: COSM612933
MyVariant Identifiers: chrX:g.43817761T>C (hg19) chrX:g.43958515T>C (hg38)
PubMed: PMID:1303264
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43958515T>C , CM000685.2:g.43958515T>C GRCh38
NC_000023.10:g.43817761T>C , CM000685.1:g.43817761T>C GRCh37
NC_000023.9:g.43702705T>C NCBI36
NG_009832.1:g.20161A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.131A>G (NDP) MANE Select ENSP00000495972.1:p.Tyr44Cys
ENST00000647044.1:c.131A>G (NDP) ENSP00000495811.1:p.Tyr44Cys
ENST00000378062.5:c.131A>G (NDP) ENSP00000367301.5:p.Tyr44Cys
ENST00000470584.1:n.218+203A>G (NDP)
NM_000266.3:c.131A>G (NDP) NP_000257.1:p.Tyr44Cys
NR_046631.1:n.467-2270T>C (NDP-AS1)
NM_000266.4:c.131A>G (NDP) MANE Select NP_000257.1:p.Tyr44Cys
Search 100 bp 5'
Search 100 bp 3'