Canonical Allele Identifier: CA415287008

Gene: NSDHL

Linked Data

• MyVariant Identifiers: chrX:g.152036213G>C (hg19) ; chrX:g.152867669G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152867669G>C , CM000685.2:g.152867669G>C	GRCh38
NC_000023.10:g.152036213G>C , CM000685.1:g.152036213G>C	GRCh37
NC_000023.9:g.151786869G>C	NCBI36
NG_009163.1:g.41703G>C
NG_009163.2:g.41703G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.785G>C MANE Select	ENSP00000359297.3:p.Gly262Ala
ENST00000370274.7:c.785G>C	ENSP00000359297.3:p.Gly262Ala
ENST00000440023.5:c.785G>C	ENSP00000391854.1:p.Gly262Ala
NM_001129765.1:c.785G>C	NP_001123237.1:p.Gly262Ala
NM_015922.2:c.785G>C	NP_057006.1:p.Gly262Ala
XM_011531178.1:c.785G>C	XP_011529480.1:p.Gly262Ala
XM_011531178.2:c.785G>C	XP_011529480.1:p.Gly262Ala
XM_017029564.1:c.833G>C	XP_016885053.1:p.Gly278Ala
NM_015922.3:c.785G>C MANE Select	NP_057006.1:p.Gly262Ala
NM_001129765.2:c.785G>C	NP_001123237.1:p.Gly262Ala