Canonical Allele Identifier: CA10544766

Gene: NSDHL

Linked Data

• dbSNP Id: rs782461355
• ExAC: X:152031096 G / A
• gnomAD v2: X-152031096-G-A
• gnomAD v4: X-152862552-G-A
• MyVariant Identifiers: chrX:g.152031096G>A (hg19) ; chrX:g.152862552G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152862552G>A , CM000685.2:g.152862552G>A	GRCh38
NC_000023.10:g.152031096G>A , CM000685.1:g.152031096G>A	GRCh37
NC_000023.9:g.151781752G>A	NCBI36
NG_009163.1:g.36586G>A
NG_009163.2:g.36586G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370274.8:c.415-44G>A MANE Select	ENSP00000359297.3:n.415-44G>A
ENST00000370274.7:c.415-44G>A	ENSP00000359297.3:n.415-44G>A
ENST00000432467.1:c.415-44G>A	ENSP00000396266.1:n.415-44G>A
ENST00000440023.5:c.415-44G>A	ENSP00000391854.1:n.415-44G>A
NM_001129765.1:c.415-44G>A	NP_001123237.1:n.415-44G>A
NM_015922.2:c.415-44G>A	NP_057006.1:n.415-44G>A
XM_011531178.1:c.415-44G>A	XP_011529480.1:n.415-44G>A
XM_011531178.2:c.415-44G>A	XP_011529480.1:n.415-44G>A
XM_017029564.1:c.463-44G>A	XP_016885053.1:n.463-44G>A
NM_015922.3:c.415-44G>A MANE Select	NP_057006.1:n.415-44G>A
NM_001129765.2:c.415-44G>A	NP_001123237.1:n.415-44G>A