Canonical Allele Identifier: CA415287483

Gene: NSDHL

Linked Data

• MyVariant Identifiers: chrX:g.152037544C>G (hg19) ; chrX:g.152869000C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152869000C>G , CM000685.2:g.152869000C>G	GRCh38
NC_000023.10:g.152037544C>G , CM000685.1:g.152037544C>G	GRCh37
NC_000023.9:g.151788200C>G	NCBI36
NG_009163.1:g.43034C>G
NG_009163.2:g.43034C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370274.8:c.1006C>G MANE Select	ENSP00000359297.3:p.His336Asp
ENST00000370274.7:c.1006C>G	ENSP00000359297.3:p.His336Asp
ENST00000440023.5:c.1006C>G	ENSP00000391854.1:p.His336Asp
NM_001129765.1:c.1006C>G	NP_001123237.1:p.His336Asp
NM_015922.2:c.1006C>G	NP_057006.1:p.His336Asp
XM_011531178.1:c.1006C>G	XP_011529480.1:p.His336Asp
XM_011531178.2:c.1006C>G	XP_011529480.1:p.His336Asp
XM_017029564.1:c.1054C>G	XP_016885053.1:p.His352Asp
NM_015922.3:c.1006C>G MANE Select	NP_057006.1:p.His336Asp
NM_001129765.2:c.1006C>G	NP_001123237.1:p.His336Asp