Canonical Allele Identifier: CA255882
Gene: NSDHL HGNC NCBI

Linked Data

ClinVar Variation Id: 11428
ClinVar RCV Id: RCV000012181
dbSNP Id: rs104894902

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152865903C>T , CM000685.2:g.152865903C>T GRCh38
NC_000023.10:g.152034447C>T , CM000685.1:g.152034447C>T GRCh37
NC_000023.9:g.151785103C>T NCBI36
NG_009163.1:g.39937C>T
NG_009163.2:g.39937C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370274.8:c.628C>T MANE Select ENSP00000359297.3:p.Gln210Ter
ENST00000370274.7:c.628C>T ENSP00000359297.3:p.Gln210Ter
ENST00000432467.1:c.628C>T ENSP00000396266.1:p.Gln210Ter
ENST00000440023.5:c.628C>T ENSP00000391854.1:p.Gln210Ter
NM_001129765.1:c.628C>T NP_001123237.1:p.Gln210Ter
NM_015922.2:c.628C>T NP_057006.1:p.Gln210Ter
XM_011531178.1:c.628C>T XP_011529480.1:p.Gln210Ter
XM_011531178.2:c.628C>T XP_011529480.1:p.Gln210Ter
XM_017029564.1:c.676C>T XP_016885053.1:p.Gln226Ter
NM_015922.3:c.628C>T MANE Select NP_057006.1:p.Gln210Ter
NM_001129765.2:c.628C>T NP_001123237.1:p.Gln210Ter