Canonical Allele Identifier: CA645215043

Gene: NSDHL

Linked Data

• dbSNP Id: rs1556847630
• gnomAD v2: X-152031109-A-T
• gnomAD v3: X-152862565-A-T
• gnomAD v4: X-152862565-A-T
• MyVariant Identifiers: chrX:g.152031109A>T (hg19) ; chrX:g.152862565A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152862565A>T , CM000685.2:g.152862565A>T	GRCh38
NC_000023.10:g.152031109A>T , CM000685.1:g.152031109A>T	GRCh37
NC_000023.9:g.151781765A>T	NCBI36
NG_009163.1:g.36599A>T
NG_009163.2:g.36599A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370274.8:c.415-31A>T MANE Select	ENSP00000359297.3:n.415-31A>T
ENST00000370274.7:c.415-31A>T	ENSP00000359297.3:n.415-31A>T
ENST00000432467.1:c.415-31A>T	ENSP00000396266.1:n.415-31A>T
ENST00000440023.5:c.415-31A>T	ENSP00000391854.1:n.415-31A>T
NM_001129765.1:c.415-31A>T	NP_001123237.1:n.415-31A>T
NM_015922.2:c.415-31A>T	NP_057006.1:n.415-31A>T
XM_011531178.1:c.415-31A>T	XP_011529480.1:n.415-31A>T
XM_011531178.2:c.415-31A>T	XP_011529480.1:n.415-31A>T
XM_017029564.1:c.463-31A>T	XP_016885053.1:n.463-31A>T
NM_015922.3:c.415-31A>T MANE Select	NP_057006.1:n.415-31A>T
NM_001129765.2:c.415-31A>T	NP_001123237.1:n.415-31A>T