Canonical Allele Identifier: CA645215042

Gene: NSDHL

Linked Data

• dbSNP Id: rs1556847628
• gnomAD v2: X-152031104-T-C
• gnomAD v4: X-152862560-T-C
• MyVariant Identifiers: chrX:g.152031104T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152862560T>C , CM000685.2:g.152862560T>C	GRCh38
NC_000023.10:g.152031104T>C , CM000685.1:g.152031104T>C	GRCh37
NC_000023.9:g.151781760T>C	NCBI36
NG_009163.1:g.36594T>C
NG_009163.2:g.36594T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370274.8:c.415-36T>C MANE Select	ENSP00000359297.3:n.415-36T>C
ENST00000370274.7:c.415-36T>C	ENSP00000359297.3:n.415-36T>C
ENST00000432467.1:c.415-36T>C	ENSP00000396266.1:n.415-36T>C
ENST00000440023.5:c.415-36T>C	ENSP00000391854.1:n.415-36T>C
NM_001129765.1:c.415-36T>C	NP_001123237.1:n.415-36T>C
NM_015922.2:c.415-36T>C	NP_057006.1:n.415-36T>C
XM_011531178.1:c.415-36T>C	XP_011529480.1:n.415-36T>C
XM_011531178.2:c.415-36T>C	XP_011529480.1:n.415-36T>C
XM_017029564.1:c.463-36T>C	XP_016885053.1:n.463-36T>C
NM_015922.3:c.415-36T>C MANE Select	NP_057006.1:n.415-36T>C
NM_001129765.2:c.415-36T>C	NP_001123237.1:n.415-36T>C