Canonical Allele Identifier: CA415286966

Gene: NSDHL

Linked Data

• MyVariant Identifiers: chrX:g.152036191T>C (hg19) ; chrX:g.152867647T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152867647T>C , CM000685.2:g.152867647T>C	GRCh38
NC_000023.10:g.152036191T>C , CM000685.1:g.152036191T>C	GRCh37
NC_000023.9:g.151786847T>C	NCBI36
NG_009163.1:g.41681T>C
NG_009163.2:g.41681T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.763T>C MANE Select	ENSP00000359297.3:p.Ser255Pro
ENST00000370274.7:c.763T>C	ENSP00000359297.3:p.Ser255Pro
ENST00000432467.1:c.763T>C
ENST00000440023.5:c.763T>C	ENSP00000391854.1:p.Ser255Pro
NM_001129765.1:c.763T>C	NP_001123237.1:p.Ser255Pro
NM_015922.2:c.763T>C	NP_057006.1:p.Ser255Pro
XM_011531178.1:c.763T>C	XP_011529480.1:p.Ser255Pro
XM_011531178.2:c.763T>C	XP_011529480.1:p.Ser255Pro
XM_017029564.1:c.811T>C	XP_016885053.1:p.Ser271Pro
NM_015922.3:c.763T>C MANE Select	NP_057006.1:p.Ser255Pro
NM_001129765.2:c.763T>C	NP_001123237.1:p.Ser255Pro