Canonical Allele Identifier: CA2466151264
Community Standard Title: NM_015922.3(NSDHL):c.314C= (p.Ala105=)
Gene: NSDHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152858816C= , CM000685.2:g.152858816C= GRCh38
NC_000023.10:g.152027360C= , CM000685.1:g.152027360C= GRCh37
NC_000023.9:g.151778016C= NCBI36
NG_009163.1:g.32850C=
NG_009163.2:g.32850C=

Transcript Alleles

HGVS Amino-acid Change
NM_015922.3:c.314C= MANE Select NP_057006.1:p.Ala105=
ENST00000370274.8:c.314C= MANE Select ENSP00000359297.3:p.Ala105=
NM_001129765.1:c.314C= NP_001123237.1:p.Ala105=
NM_001129765.2:c.314C= NP_001123237.1:p.Ala105=
NM_015922.2:c.314C= NP_057006.1:p.Ala105=
ENST00000370274.7:c.314C= ENSP00000359297.3:p.Ala105=
ENST00000432467.1:c.314C= ENSP00000396266.1:p.Ala105=
ENST00000440023.5:c.314C= ENSP00000391854.1:p.Ala105=
XM_011531178.1:c.314C= XP_011529480.1:p.Ala105=
XM_011531178.2:c.314C= XP_011529480.1:p.Ala105=
XM_017029564.1:c.362C= XP_016885053.1:p.Ala121=