Canonical Allele Identifier: CA415287378

Gene: NSDHL

Linked Data

• MyVariant Identifiers: chrX:g.152037494A>C (hg19) ; chrX:g.152868950A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152868950A>C , CM000685.2:g.152868950A>C	GRCh38
NC_000023.10:g.152037494A>C , CM000685.1:g.152037494A>C	GRCh37
NC_000023.9:g.151788150A>C	NCBI36
NG_009163.1:g.42984A>C
NG_009163.2:g.42984A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.956A>C MANE Select	ENSP00000359297.3:p.Gln319Pro
ENST00000370274.7:c.956A>C	ENSP00000359297.3:p.Gln319Pro
ENST00000440023.5:c.956A>C	ENSP00000391854.1:p.Gln319Pro
NM_001129765.1:c.956A>C	NP_001123237.1:p.Gln319Pro
NM_015922.2:c.956A>C	NP_057006.1:p.Gln319Pro
XM_011531178.1:c.956A>C	XP_011529480.1:p.Gln319Pro
XM_011531178.2:c.956A>C	XP_011529480.1:p.Gln319Pro
XM_017029564.1:c.1004A>C	XP_016885053.1:p.Gln335Pro
NM_015922.3:c.956A>C MANE Select	NP_057006.1:p.Gln319Pro
NM_001129765.2:c.956A>C	NP_001123237.1:p.Gln319Pro