Canonical Allele Identifier: CA519182794
Gene: NSDHL HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.152037549C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152869005C>T , CM000685.2:g.152869005C>T GRCh38
NC_000023.10:g.152037549C>T , CM000685.1:g.152037549C>T GRCh37
NC_000023.9:g.151788205C>T NCBI36
NG_009163.1:g.43039C>T
NG_009163.2:g.43039C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370274.8:c.1011C>T MANE Select ENSP00000359297.3:p.Tyr337=
ENST00000370274.7:c.1011C>T ENSP00000359297.3:p.Tyr337=
ENST00000440023.5:c.1011C>T ENSP00000391854.1:p.Tyr337=
NM_001129765.1:c.1011C>T NP_001123237.1:p.Tyr337=
NM_015922.2:c.1011C>T NP_057006.1:p.Tyr337=
XM_011531178.1:c.1011C>T XP_011529480.1:p.Tyr337=
XM_011531178.2:c.1011C>T XP_011529480.1:p.Tyr337=
XM_017029564.1:c.1059C>T XP_016885053.1:p.Tyr353=
NM_015922.3:c.1011C>T MANE Select NP_057006.1:p.Tyr337=
NM_001129765.2:c.1011C>T NP_001123237.1:p.Tyr337=