Canonical Allele Identifier: CA10391409

Gene: NDP NDP-AS1

Linked Data

• ClinVar Variation Id: 812352
• ClinVar RCV Id: RCV001003091 ; RCV001306511 ; RCV001375287
• dbSNP Id: rs104894867
• ExAC: X:43809178 C / T
• gnomAD v2: X-43809178-C-T
• gnomAD v3: X-43949932-C-T
• gnomAD v4: X-43949932-C-T
• MyVariant Identifiers: chrX:g.43809178C>T (hg19) ; chrX:g.43949932C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.43949932C>T , CM000685.2:g.43949932C>T	GRCh38
NC_000023.10:g.43809178C>T , CM000685.1:g.43809178C>T	GRCh37
NC_000023.9:g.43694122C>T	NCBI36
NG_009832.1:g.28744G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642620.1:c.269G>A (NDP) MANE Select	ENSP00000495972.1:p.Arg90His
ENST00000647044.1:c.269G>A (NDP)	ENSP00000495811.1:p.Arg90His
ENST00000378062.5:c.269G>A (NDP)	ENSP00000367301.5:p.Arg90His
ENST00000470584.1:n.313G>A (NDP)
NM_000266.3:c.269G>A (NDP)	NP_000257.1:p.Arg90His
NR_046631.1:n.201C>T (NDP-AS1)
NM_000266.4:c.269G>A (NDP) MANE Select	NP_000257.1:p.Arg90His