Canonical Allele Identifier: CA516139299

Linked Data

dbSNP Id: rs140653237
gnomAD v4: X-43949789-G-A
MyVariant Identifiers: chrX:g.43809035G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949789G>A , CM000685.2:g.43949789G>A GRCh38
NC_000023.10:g.43809035G>A , CM000685.1:g.43809035G>A GRCh37
NC_000023.9:g.43693979G>A NCBI36
NG_009832.1:g.28887C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.*10C>T (NDP) MANE Select ENSP00000495972.1:n.*10C>T
ENST00000647044.1:c.*10C>T (NDP) ENSP00000495811.1:n.*10C>T
ENST00000378062.5:c.*10C>T (NDP) ENSP00000367301.5:n.*10C>T
ENST00000470584.1:n.456C>T (NDP)
NM_000266.3:c.*10C>T (NDP) NP_000257.1:n.*10C>T
NR_046631.1:n.58G>A (NDP-AS1)
NM_000266.4:c.*10C>T (NDP) MANE Select NP_000257.1:n.*10C>T