Canonical Allele Identifier: CA415285220
Gene: NSDHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152862645T>C , CM000685.2:g.152862645T>C GRCh38
NC_000023.10:g.152031189T>C , CM000685.1:g.152031189T>C GRCh37
NC_000023.9:g.151781845T>C NCBI36
NG_009163.1:g.36679T>C
NG_009163.2:g.36679T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370274.8:c.464T>C MANE Select ENSP00000359297.3:p.Ile155Thr
ENST00000370274.7:c.464T>C ENSP00000359297.3:p.Ile155Thr
ENST00000432467.1:c.464T>C ENSP00000396266.1:p.Ile155Thr
ENST00000440023.5:c.464T>C ENSP00000391854.1:p.Ile155Thr
NM_001129765.1:c.464T>C NP_001123237.1:p.Ile155Thr
NM_015922.2:c.464T>C NP_057006.1:p.Ile155Thr
XM_011531178.1:c.464T>C XP_011529480.1:p.Ile155Thr
XM_011531178.2:c.464T>C XP_011529480.1:p.Ile155Thr
XM_017029564.1:c.512T>C XP_016885053.1:p.Ile171Thr
NM_015922.3:c.464T>C MANE Select NP_057006.1:p.Ile155Thr
NM_001129765.2:c.464T>C NP_001123237.1:p.Ile155Thr