Canonical Allele Identifier: CA2466153929
Gene: NSDHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152867689C= , CM000685.2:g.152867689C= GRCh38
NC_000023.10:g.152036233C= , CM000685.1:g.152036233C= GRCh37
NC_000023.9:g.151786889C= NCBI36
NG_009163.1:g.41723C=
NG_009163.2:g.41723C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370274.8:c.789+16C= MANE Select ENSP00000359297.3:n.789+16C=
ENST00000370274.7:c.789+16C= ENSP00000359297.3:n.789+16C=
ENST00000440023.5:c.789+16C= ENSP00000391854.1:n.789+16C=
NM_001129765.1:c.789+16C= NP_001123237.1:n.789+16C=
NM_015922.2:c.789+16C= NP_057006.1:n.789+16C=
XM_011531178.1:c.789+16C= XP_011529480.1:n.789+16C=
XM_011531178.2:c.789+16C= XP_011529480.1:n.789+16C=
XM_017029564.1:c.837+16C= XP_016885053.1:n.837+16C=
NM_015922.3:c.789+16C= MANE Select NP_057006.1:n.789+16C=
NM_001129765.2:c.789+16C= NP_001123237.1:n.789+16C=