Canonical Allele Identifier: CA516139439

Linked Data

gnomAD v4: X-43949874-T-C
MyVariant Identifiers: chrX:g.43809120T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949874T>C , CM000685.2:g.43949874T>C GRCh38
NC_000023.10:g.43809120T>C , CM000685.1:g.43809120T>C GRCh37
NC_000023.9:g.43694064T>C NCBI36
NG_009832.1:g.28802A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.327A>G (NDP) MANE Select ENSP00000495972.1:p.Arg109=
ENST00000647044.1:c.327A>G (NDP) ENSP00000495811.1:p.Arg109=
ENST00000378062.5:c.327A>G (NDP) ENSP00000367301.5:p.Arg109=
ENST00000470584.1:n.371A>G (NDP)
NM_000266.3:c.327A>G (NDP) NP_000257.1:p.Arg109=
NR_046631.1:n.143T>C (NDP-AS1)
NM_000266.4:c.327A>G (NDP) MANE Select NP_000257.1:p.Arg109=