Canonical Allele Identifier: CA415287497

Gene: NSDHL

Linked Data

• MyVariant Identifiers: chrX:g.152037549C>A (hg19) ; chrX:g.152869005C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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