Canonical Allele Identifier: CA415287503

Gene: NSDHL

Linked Data

• MyVariant Identifiers: chrX:g.152037551A>G (hg19) ; chrX:g.152869007A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152869007A>G , CM000685.2:g.152869007A>G	GRCh38
NC_000023.10:g.152037551A>G , CM000685.1:g.152037551A>G	GRCh37
NC_000023.9:g.151788207A>G	NCBI36
NG_009163.1:g.43041A>G
NG_009163.2:g.43041A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370274.8:c.1013A>G MANE Select	ENSP00000359297.3:p.Tyr338Cys
ENST00000370274.7:c.1013A>G	ENSP00000359297.3:p.Tyr338Cys
ENST00000440023.5:c.1013A>G	ENSP00000391854.1:p.Tyr338Cys
NM_001129765.1:c.1013A>G	NP_001123237.1:p.Tyr338Cys
NM_015922.2:c.1013A>G	NP_057006.1:p.Tyr338Cys
XM_011531178.1:c.1013A>G	XP_011529480.1:p.Tyr338Cys
XM_011531178.2:c.1013A>G	XP_011529480.1:p.Tyr338Cys
XM_017029564.1:c.1061A>G	XP_016885053.1:p.Tyr354Cys
NM_015922.3:c.1013A>G MANE Select	NP_057006.1:p.Tyr338Cys
NM_001129765.2:c.1013A>G	NP_001123237.1:p.Tyr338Cys