Canonical Allele Identifier: CA10391438
Gene: NDP HGNC NCBI
NDP-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2833339
ClinVar RCV Id: RCV003691940
dbSNP Id: rs762339635
ExAC: X:43817735 A / G
gnomAD v2: X-43817735-A-G
gnomAD v3: X-43958489-A-G
gnomAD v4: X-43958489-A-G
MyVariant Identifiers: chrX:g.43817735A>G (hg19) chrX:g.43958489A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43958489A>G , CM000685.2:g.43958489A>G GRCh38
NC_000023.10:g.43817735A>G , CM000685.1:g.43817735A>G GRCh37
NC_000023.9:g.43702679A>G NCBI36
NG_009832.1:g.20187T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.157T>C (NDP) MANE Select ENSP00000495972.1:p.Tyr53His
ENST00000647044.1:c.157T>C (NDP) ENSP00000495811.1:p.Tyr53His
ENST00000378062.5:c.157T>C (NDP) ENSP00000367301.5:p.Tyr53His
ENST00000470584.1:n.218+229T>C (NDP)
NM_000266.3:c.157T>C (NDP) NP_000257.1:p.Tyr53His
NR_046631.1:n.467-2296A>G (NDP-AS1)
NM_000266.4:c.157T>C (NDP) MANE Select NP_000257.1:p.Tyr53His
Search 100 bp 5'
Search 100 bp 3'