Canonical Allele Identifier: CA341092
Gene: NSDHL HGNC NCBI

Linked Data

ClinVar Variation Id: 11429
ClinVar RCV Id: RCV000012182
dbSNP Id: rs104894903

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152850418C>T , CM000685.2:g.152850418C>T GRCh38
NC_000023.10:g.152018962C>T , CM000685.1:g.152018962C>T GRCh37
NC_000023.9:g.151769618C>T NCBI36
NG_009163.1:g.24452C>T
NG_009163.2:g.24452C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370274.8:c.262C>T MANE Select ENSP00000359297.3:p.Arg88Ter
ENST00000370274.7:c.262C>T ENSP00000359297.3:p.Arg88Ter
ENST00000432467.1:c.262C>T ENSP00000396266.1:p.Arg88Ter
ENST00000440023.5:c.262C>T ENSP00000391854.1:p.Arg88Ter
NM_001129765.1:c.262C>T NP_001123237.1:p.Arg88Ter
NM_015922.2:c.262C>T NP_057006.1:p.Arg88Ter
XM_011531178.1:c.262C>T XP_011529480.1:p.Arg88Ter
XM_011531178.2:c.262C>T XP_011529480.1:p.Arg88Ter
XM_017029564.1:c.310C>T XP_016885053.1:p.Arg104Ter
NM_015922.3:c.262C>T MANE Select NP_057006.1:p.Arg88Ter
NM_001129765.2:c.262C>T NP_001123237.1:p.Arg88Ter