Canonical Allele Identifier: CA341091

Gene: NSDHL

Linked Data

• ClinVar Variation Id: 11427
• ClinVar RCV Id: RCV000012180
• dbSNP Id: rs104894901
• MyVariant Identifiers: chrX:g.152034432G>A (hg19) ; chrX:g.152865888G>A (hg38)
• PubMed: PMID:10710235 ; PMID:21290788

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152865888G>A , CM000685.2:g.152865888G>A	GRCh38
NC_000023.10:g.152034432G>A , CM000685.1:g.152034432G>A	GRCh37
NC_000023.9:g.151785088G>A	NCBI36
NG_009163.1:g.39922G>A
NG_009163.2:g.39922G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.613G>A MANE Select	ENSP00000359297.3:p.Gly205Ser
ENST00000370274.7:c.613G>A	ENSP00000359297.3:p.Gly205Ser
ENST00000432467.1:c.613G>A	ENSP00000396266.1:p.Gly205Ser
ENST00000440023.5:c.613G>A	ENSP00000391854.1:p.Gly205Ser
NM_001129765.1:c.613G>A	NP_001123237.1:p.Gly205Ser
NM_015922.2:c.613G>A	NP_057006.1:p.Gly205Ser
XM_011531178.1:c.613G>A	XP_011529480.1:p.Gly205Ser
XM_011531178.2:c.613G>A	XP_011529480.1:p.Gly205Ser
XM_017029564.1:c.661G>A	XP_016885053.1:p.Gly221Ser
NM_015922.3:c.613G>A MANE Select	NP_057006.1:p.Gly205Ser
NM_001129765.2:c.613G>A	NP_001123237.1:p.Gly205Ser