Canonical Allele Identifier: CA272345

Gene: NSDHL

Linked Data

• ClinVar Variation Id: 159454
• ClinVar RCV Id: RCV000146965
• dbSNP Id: rs141571609
• MyVariant Identifiers: chrX:g.152036185C>T (hg19) ; chrX:g.152867641C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152867641C>T , CM000685.2:g.152867641C>T	GRCh38
NC_000023.10:g.152036185C>T , CM000685.1:g.152036185C>T	GRCh37
NC_000023.9:g.151786841C>T	NCBI36
NG_009163.1:g.41675C>T
NG_009163.2:g.41675C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.757C>T MANE Select	ENSP00000359297.3:p.Gln253Ter
ENST00000370274.7:c.757C>T	ENSP00000359297.3:p.Gln253Ter
ENST00000432467.1:c.757C>T	ENSP00000396266.1:p.Gln253Ter
ENST00000440023.5:c.757C>T	ENSP00000391854.1:p.Gln253Ter
NM_001129765.1:c.757C>T	NP_001123237.1:p.Gln253Ter
NM_015922.2:c.757C>T	NP_057006.1:p.Gln253Ter
XM_011531178.1:c.757C>T	XP_011529480.1:p.Gln253Ter
XM_011531178.2:c.757C>T	XP_011529480.1:p.Gln253Ter
XM_017029564.1:c.805C>T	XP_016885053.1:p.Gln269Ter
NM_015922.3:c.757C>T MANE Select	NP_057006.1:p.Gln253Ter
NM_001129765.2:c.757C>T	NP_001123237.1:p.Gln253Ter