Canonical Allele Identifier: CA516139152

Linked Data

MyVariant Identifiers: chrX:g.43808993T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949747T>G , CM000685.2:g.43949747T>G GRCh38
NC_000023.10:g.43808993T>G , CM000685.1:g.43808993T>G GRCh37
NC_000023.9:g.43693937T>G NCBI36
NG_009832.1:g.28929A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.*52A>C (NDP) MANE Select ENSP00000495972.1:n.*52A>C
ENST00000647044.1:c.*52A>C (NDP) ENSP00000495811.1:n.*52A>C
ENST00000378062.5:c.*52A>C (NDP) ENSP00000367301.5:n.*52A>C
ENST00000470584.1:n.498A>C (NDP)
NM_000266.3:c.*52A>C (NDP) NP_000257.1:n.*52A>C
NR_046631.1:n.16T>G (NDP-AS1)
NM_000266.4:c.*52A>C (NDP) MANE Select NP_000257.1:n.*52A>C