Canonical Allele Identifier: CA2466154441
Gene: NSDHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152868999C= , CM000685.2:g.152868999C= GRCh38
NC_000023.10:g.152037543C= , CM000685.1:g.152037543C= GRCh37
NC_000023.9:g.151788199C= NCBI36
NG_009163.1:g.43033C=
NG_009163.2:g.43033C=

Transcript Alleles

HGVS Amino-acid change
ENST00000370274.8:c.1005C= MANE Select ENSP00000359297.3:p.Phe335=
ENST00000370274.7:c.1005C= ENSP00000359297.3:p.Phe335=
ENST00000440023.5:c.1005C= ENSP00000391854.1:p.Phe335=
NM_001129765.1:c.1005C= NP_001123237.1:p.Phe335=
NM_015922.2:c.1005C= NP_057006.1:p.Phe335=
XM_011531178.1:c.1005C= XP_011529480.1:p.Phe335=
XM_011531178.2:c.1005C= XP_011529480.1:p.Phe335=
XM_017029564.1:c.1053C= XP_016885053.1:p.Phe351=
NM_015922.3:c.1005C= MANE Select NP_057006.1:p.Phe335=
NM_001129765.2:c.1005C= NP_001123237.1:p.Phe335=