Canonical Allele Identifier: CA519182647
Gene: NSDHL HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.152037462C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152868918C>G , CM000685.2:g.152868918C>G GRCh38
NC_000023.10:g.152037462C>G , CM000685.1:g.152037462C>G GRCh37
NC_000023.9:g.151788118C>G NCBI36
NG_009163.1:g.42952C>G
NG_009163.2:g.42952C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370274.8:c.924C>G MANE Select ENSP00000359297.3:p.Ser308=
ENST00000370274.7:c.924C>G ENSP00000359297.3:p.Ser308=
ENST00000440023.5:c.924C>G ENSP00000391854.1:p.Ser308=
NM_001129765.1:c.924C>G NP_001123237.1:p.Ser308=
NM_015922.2:c.924C>G NP_057006.1:p.Ser308=
XM_011531178.1:c.924C>G XP_011529480.1:p.Ser308=
XM_011531178.2:c.924C>G XP_011529480.1:p.Ser308=
XM_017029564.1:c.972C>G XP_016885053.1:p.Ser324=
NM_015922.3:c.924C>G MANE Select NP_057006.1:p.Ser308=
NM_001129765.2:c.924C>G NP_001123237.1:p.Ser308=