Canonical Allele Identifier: CA2466154458
Community Standard Title: NM_015922.3(NSDHL):c.1046A= (p.Tyr349=)
Gene: NSDHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152869040A= , CM000685.2:g.152869040A= GRCh38
NC_000023.10:g.152037584A= , CM000685.1:g.152037584A= GRCh37
NC_000023.9:g.151788240A= NCBI36
NG_009163.1:g.43074A=
NG_009163.2:g.43074A=

Transcript Alleles

HGVS Amino-acid Change
NM_015922.3:c.1046A= MANE Select NP_057006.1:p.Tyr349=
ENST00000370274.8:c.1046A= MANE Select ENSP00000359297.3:p.Tyr349=
NM_001129765.1:c.1046A= NP_001123237.1:p.Tyr349=
NM_001129765.2:c.1046A= NP_001123237.1:p.Tyr349=
NM_015922.2:c.1046A= NP_057006.1:p.Tyr349=
ENST00000370274.7:c.1046A= ENSP00000359297.3:p.Tyr349=
ENST00000440023.5:c.1046A= ENSP00000391854.1:p.Tyr349=
XM_011531178.1:c.1046A= XP_011529480.1:p.Tyr349=
XM_011531178.2:c.1046A= XP_011529480.1:p.Tyr349=
XM_017029564.1:c.1094A= XP_016885053.1:p.Tyr365=