Canonical Allele Identifier: CA1138498690

Gene: NSDHL

Linked Data

• gnomAD v3: X-152862992-T-C
• gnomAD v4: X-152862992-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152862992T>C , CM000685.2:g.152862992T>C	GRCh38
NC_000023.10:g.152031536T>C , CM000685.1:g.152031536T>C	GRCh37
NC_000023.9:g.151782192T>C	NCBI36
NG_009163.1:g.37026T>C
NG_009163.2:g.37026T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.543+268T>C MANE Select	ENSP00000359297.3:n.543+268T>C
ENST00000370274.7:c.543+268T>C	ENSP00000359297.3:n.543+268T>C
ENST00000432467.1:c.543+268T>C	ENSP00000396266.1:n.543+268T>C
ENST00000440023.5:c.543+268T>C	ENSP00000391854.1:n.543+268T>C
NM_001129765.1:c.543+268T>C	NP_001123237.1:n.543+268T>C
NM_015922.2:c.543+268T>C	NP_057006.1:n.543+268T>C
XM_011531178.1:c.543+268T>C	XP_011529480.1:n.543+268T>C
XM_011531178.2:c.543+268T>C	XP_011529480.1:n.543+268T>C
XM_017029564.1:c.591+268T>C	XP_016885053.1:n.591+268T>C
NM_015922.3:c.543+268T>C MANE Select	NP_057006.1:n.543+268T>C
NM_001129765.2:c.543+268T>C	NP_001123237.1:n.543+268T>C