Canonical Allele Identifier: CA415286927

Gene: NSDHL

Linked Data

• MyVariant Identifiers: chrX:g.152036171T>C (hg19) ; chrX:g.152867627T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152867627T>C , CM000685.2:g.152867627T>C	GRCh38
NC_000023.10:g.152036171T>C , CM000685.1:g.152036171T>C	GRCh37
NC_000023.9:g.151786827T>C	NCBI36
NG_009163.1:g.41661T>C
NG_009163.2:g.41661T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.743T>C MANE Select	ENSP00000359297.3:p.Ile248Thr
ENST00000370274.7:c.743T>C	ENSP00000359297.3:p.Ile248Thr
ENST00000432467.1:c.743T>C	ENSP00000396266.1:p.Ile248Thr
ENST00000440023.5:c.743T>C	ENSP00000391854.1:p.Ile248Thr
NM_001129765.1:c.743T>C	NP_001123237.1:p.Ile248Thr
NM_015922.2:c.743T>C	NP_057006.1:p.Ile248Thr
XM_011531178.1:c.743T>C	XP_011529480.1:p.Ile248Thr
XM_011531178.2:c.743T>C	XP_011529480.1:p.Ile248Thr
XM_017029564.1:c.791T>C	XP_016885053.1:p.Ile264Thr
NM_015922.3:c.743T>C MANE Select	NP_057006.1:p.Ile248Thr
NM_001129765.2:c.743T>C	NP_001123237.1:p.Ile248Thr