Canonical Allele Identifier: CA415287498
Gene: NSDHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152869005C>G , CM000685.2:g.152869005C>G GRCh38
NC_000023.10:g.152037549C>G , CM000685.1:g.152037549C>G GRCh37
NC_000023.9:g.151788205C>G NCBI36
NG_009163.1:g.43039C>G
NG_009163.2:g.43039C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370274.8:c.1011C>G MANE Select ENSP00000359297.3:p.Tyr337Ter
ENST00000370274.7:c.1011C>G ENSP00000359297.3:p.Tyr337Ter
ENST00000440023.5:c.1011C>G ENSP00000391854.1:p.Tyr337Ter
NM_001129765.1:c.1011C>G NP_001123237.1:p.Tyr337Ter
NM_015922.2:c.1011C>G NP_057006.1:p.Tyr337Ter
XM_011531178.1:c.1011C>G XP_011529480.1:p.Tyr337Ter
XM_011531178.2:c.1011C>G XP_011529480.1:p.Tyr337Ter
XM_017029564.1:c.1059C>G XP_016885053.1:p.Tyr353Ter
NM_015922.3:c.1011C>G MANE Select NP_057006.1:p.Tyr337Ter
NM_001129765.2:c.1011C>G NP_001123237.1:p.Tyr337Ter