Canonical Allele Identifier: CA519182792
Gene: NSDHL HGNC NCBI

Linked Data

dbSNP Id: rs1933661504
MyVariant Identifiers: chrX:g.152037546C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152869002C>T , CM000685.2:g.152869002C>T GRCh38
NC_000023.10:g.152037546C>T , CM000685.1:g.152037546C>T GRCh37
NC_000023.9:g.151788202C>T NCBI36
NG_009163.1:g.43036C>T
NG_009163.2:g.43036C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370274.8:c.1008C>T MANE Select ENSP00000359297.3:p.His336=
ENST00000370274.7:c.1008C>T ENSP00000359297.3:p.His336=
ENST00000440023.5:c.1008C>T ENSP00000391854.1:p.His336=
NM_001129765.1:c.1008C>T NP_001123237.1:p.His336=
NM_015922.2:c.1008C>T NP_057006.1:p.His336=
XM_011531178.1:c.1008C>T XP_011529480.1:p.His336=
XM_011531178.2:c.1008C>T XP_011529480.1:p.His336=
XM_017029564.1:c.1056C>T XP_016885053.1:p.His352=
NM_015922.3:c.1008C>T MANE Select NP_057006.1:p.His336=
NM_001129765.2:c.1008C>T NP_001123237.1:p.His336=