Canonical Allele Identifier: CA2839367233

Gene: NSDHL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152867683G>T , CM000685.2:g.152867683G>T	GRCh38
NC_000023.10:g.152036227G>T , CM000685.1:g.152036227G>T	GRCh37
NC_000023.9:g.151786883G>T	NCBI36
NG_009163.1:g.41717G>T
NG_009163.2:g.41717G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.789+10G>T MANE Select	ENSP00000359297.3:n.789+10G>T
ENST00000370274.7:c.789+10G>T	ENSP00000359297.3:n.789+10G>T
ENST00000440023.5:c.789+10G>T	ENSP00000391854.1:n.789+10G>T
NM_001129765.1:c.789+10G>T	NP_001123237.1:n.789+10G>T
NM_015922.2:c.789+10G>T	NP_057006.1:n.789+10G>T
XM_011531178.1:c.789+10G>T	XP_011529480.1:n.789+10G>T
XM_011531178.2:c.789+10G>T	XP_011529480.1:n.789+10G>T
XM_017029564.1:c.837+10G>T	XP_016885053.1:n.837+10G>T
NM_015922.3:c.789+10G>T MANE Select	NP_057006.1:n.789+10G>T
NM_001129765.2:c.789+10G>T	NP_001123237.1:n.789+10G>T