Canonical Allele Identifier: CA519182785
Gene: NSDHL HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.152037540A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152868996A>C , CM000685.2:g.152868996A>C GRCh38
NC_000023.10:g.152037540A>C , CM000685.1:g.152037540A>C GRCh37
NC_000023.9:g.151788196A>C NCBI36
NG_009163.1:g.43030A>C
NG_009163.2:g.43030A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370274.8:c.1002A>C MANE Select ENSP00000359297.3:p.Thr334=
ENST00000370274.7:c.1002A>C ENSP00000359297.3:p.Thr334=
ENST00000440023.5:c.1002A>C ENSP00000391854.1:p.Thr334=
NM_001129765.1:c.1002A>C NP_001123237.1:p.Thr334=
NM_015922.2:c.1002A>C NP_057006.1:p.Thr334=
XM_011531178.1:c.1002A>C XP_011529480.1:p.Thr334=
XM_011531178.2:c.1002A>C XP_011529480.1:p.Thr334=
XM_017029564.1:c.1050A>C XP_016885053.1:p.Thr350=
NM_015922.3:c.1002A>C MANE Select NP_057006.1:p.Thr334=
NM_001129765.2:c.1002A>C NP_001123237.1:p.Thr334=