Canonical Allele Identifier: CA415285208
Gene: NSDHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152862641G>T , CM000685.2:g.152862641G>T GRCh38
NC_000023.10:g.152031185G>T , CM000685.1:g.152031185G>T GRCh37
NC_000023.9:g.151781841G>T NCBI36
NG_009163.1:g.36675G>T
NG_009163.2:g.36675G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370274.8:c.460G>T MANE Select ENSP00000359297.3:p.Asp154Tyr
ENST00000370274.7:c.460G>T ENSP00000359297.3:p.Asp154Tyr
ENST00000432467.1:c.460G>T ENSP00000396266.1:p.Asp154Tyr
ENST00000440023.5:c.460G>T ENSP00000391854.1:p.Asp154Tyr
NM_001129765.1:c.460G>T NP_001123237.1:p.Asp154Tyr
NM_015922.2:c.460G>T NP_057006.1:p.Asp154Tyr
XM_011531178.1:c.460G>T XP_011529480.1:p.Asp154Tyr
XM_011531178.2:c.460G>T XP_011529480.1:p.Asp154Tyr
XM_017029564.1:c.508G>T XP_016885053.1:p.Asp170Tyr
NM_015922.3:c.460G>T MANE Select NP_057006.1:p.Asp154Tyr
NM_001129765.2:c.460G>T NP_001123237.1:p.Asp154Tyr