Canonical Allele Identifier: CA415287489

Gene: NSDHL

Linked Data

• MyVariant Identifiers: chrX:g.152037546C>A (hg19) ; chrX:g.152869002C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152869002C>A , CM000685.2:g.152869002C>A	GRCh38
NC_000023.10:g.152037546C>A , CM000685.1:g.152037546C>A	GRCh37
NC_000023.9:g.151788202C>A	NCBI36
NG_009163.1:g.43036C>A
NG_009163.2:g.43036C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370274.8:c.1008C>A MANE Select	ENSP00000359297.3:p.His336Gln
ENST00000370274.7:c.1008C>A	ENSP00000359297.3:p.His336Gln
ENST00000440023.5:c.1008C>A	ENSP00000391854.1:p.His336Gln
NM_001129765.1:c.1008C>A	NP_001123237.1:p.His336Gln
NM_015922.2:c.1008C>A	NP_057006.1:p.His336Gln
XM_011531178.1:c.1008C>A	XP_011529480.1:p.His336Gln
XM_011531178.2:c.1008C>A	XP_011529480.1:p.His336Gln
XM_017029564.1:c.1056C>A	XP_016885053.1:p.His352Gln
NM_015922.3:c.1008C>A MANE Select	NP_057006.1:p.His336Gln
NM_001129765.2:c.1008C>A	NP_001123237.1:p.His336Gln