Canonical Allele Identifier: CA415285194
Gene: NSDHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152862634G>C , CM000685.2:g.152862634G>C GRCh38
NC_000023.10:g.152031178G>C , CM000685.1:g.152031178G>C GRCh37
NC_000023.9:g.151781834G>C NCBI36
NG_009163.1:g.36668G>C
NG_009163.2:g.36668G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370274.8:c.453G>C MANE Select ENSP00000359297.3:p.Glu151Asp
ENST00000370274.7:c.453G>C ENSP00000359297.3:p.Glu151Asp
ENST00000432467.1:c.453G>C ENSP00000396266.1:p.Glu151Asp
ENST00000440023.5:c.453G>C ENSP00000391854.1:p.Glu151Asp
NM_001129765.1:c.453G>C NP_001123237.1:p.Glu151Asp
NM_015922.2:c.453G>C NP_057006.1:p.Glu151Asp
XM_011531178.1:c.453G>C XP_011529480.1:p.Glu151Asp
XM_011531178.2:c.453G>C XP_011529480.1:p.Glu151Asp
XM_017029564.1:c.501G>C XP_016885053.1:p.Glu167Asp
NM_015922.3:c.453G>C MANE Select NP_057006.1:p.Glu151Asp
NM_001129765.2:c.453G>C NP_001123237.1:p.Glu151Asp