Canonical Allele Identifier: CA415286851
Gene: NSDHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152867594T>G , CM000685.2:g.152867594T>G GRCh38
NC_000023.10:g.152036138T>G , CM000685.1:g.152036138T>G GRCh37
NC_000023.9:g.151786794T>G NCBI36
NG_009163.1:g.41628T>G
NG_009163.2:g.41628T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370274.8:c.710T>G MANE Select ENSP00000359297.3:p.Phe237Cys
ENST00000370274.7:c.710T>G ENSP00000359297.3:p.Phe237Cys
ENST00000432467.1:c.710T>G ENSP00000396266.1:p.Phe237Cys
ENST00000440023.5:c.710T>G ENSP00000391854.1:p.Phe237Cys
NM_001129765.1:c.710T>G NP_001123237.1:p.Phe237Cys
NM_015922.2:c.710T>G NP_057006.1:p.Phe237Cys
XM_011531178.1:c.710T>G XP_011529480.1:p.Phe237Cys
XM_011531178.2:c.710T>G XP_011529480.1:p.Phe237Cys
XM_017029564.1:c.758T>G XP_016885053.1:p.Phe253Cys
NM_015922.3:c.710T>G MANE Select NP_057006.1:p.Phe237Cys
NM_001129765.2:c.710T>G NP_001123237.1:p.Phe237Cys