Canonical Allele Identifier: CA2840484247

Gene: NSDHL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152867539C>T , CM000685.2:g.152867539C>T	GRCh38
NC_000023.10:g.152036083C>T , CM000685.1:g.152036083C>T	GRCh37
NC_000023.9:g.151786739C>T	NCBI36
NG_009163.1:g.41573C>T
NG_009163.2:g.41573C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.687-32C>T MANE Select	ENSP00000359297.3:n.687-32C>T
ENST00000370274.7:c.687-32C>T	ENSP00000359297.3:n.687-32C>T
ENST00000432467.1:c.687-32C>T	ENSP00000396266.1:n.687-32C>T
ENST00000440023.5:c.687-32C>T	ENSP00000391854.1:n.687-32C>T
NM_001129765.1:c.687-32C>T	NP_001123237.1:n.687-32C>T
NM_015922.2:c.687-32C>T	NP_057006.1:n.687-32C>T
XM_011531178.1:c.687-32C>T	XP_011529480.1:n.687-32C>T
XM_011531178.2:c.687-32C>T	XP_011529480.1:n.687-32C>T
XM_017029564.1:c.735-32C>T	XP_016885053.1:n.735-32C>T
NM_015922.3:c.687-32C>T MANE Select	NP_057006.1:n.687-32C>T
NM_001129765.2:c.687-32C>T	NP_001123237.1:n.687-32C>T