Canonical Allele Identifier: CA2838861341

Gene: NSDHL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152867566T>C , CM000685.2:g.152867566T>C	GRCh38
NC_000023.10:g.152036110T>C , CM000685.1:g.152036110T>C	GRCh37
NC_000023.9:g.151786766T>C	NCBI36
NG_009163.1:g.41600T>C
NG_009163.2:g.41600T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.687-5T>C MANE Select	ENSP00000359297.3:n.687-5T>C
ENST00000370274.7:c.687-5T>C	ENSP00000359297.3:n.687-5T>C
ENST00000432467.1:c.687-5T>C	ENSP00000396266.1:n.687-5T>C
ENST00000440023.5:c.687-5T>C	ENSP00000391854.1:n.687-5T>C
NM_001129765.1:c.687-5T>C	NP_001123237.1:n.687-5T>C
NM_015922.2:c.687-5T>C	NP_057006.1:n.687-5T>C
XM_011531178.1:c.687-5T>C	XP_011529480.1:n.687-5T>C
XM_011531178.2:c.687-5T>C	XP_011529480.1:n.687-5T>C
XM_017029564.1:c.735-5T>C	XP_016885053.1:n.735-5T>C
NM_015922.3:c.687-5T>C MANE Select	NP_057006.1:n.687-5T>C
NM_001129765.2:c.687-5T>C	NP_001123237.1:n.687-5T>C