Canonical Allele Identifier: CA2694983090
Gene: NSDHL HGNC NCBI

Linked Data

gnomAD v4: X-152862554-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152862554G>A , CM000685.2:g.152862554G>A GRCh38
NC_000023.10:g.152031098G>A , CM000685.1:g.152031098G>A GRCh37
NC_000023.9:g.151781754G>A NCBI36
NG_009163.1:g.36588G>A
NG_009163.2:g.36588G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370274.8:c.415-42G>A MANE Select ENSP00000359297.3:n.415-42G>A
ENST00000370274.7:c.415-42G>A ENSP00000359297.3:n.415-42G>A
ENST00000432467.1:c.415-42G>A ENSP00000396266.1:n.415-42G>A
ENST00000440023.5:c.415-42G>A ENSP00000391854.1:n.415-42G>A
NM_001129765.1:c.415-42G>A NP_001123237.1:n.415-42G>A
NM_015922.2:c.415-42G>A NP_057006.1:n.415-42G>A
XM_011531178.1:c.415-42G>A XP_011529480.1:n.415-42G>A
XM_011531178.2:c.415-42G>A XP_011529480.1:n.415-42G>A
XM_017029564.1:c.463-42G>A XP_016885053.1:n.463-42G>A
NM_015922.3:c.415-42G>A MANE Select NP_057006.1:n.415-42G>A
NM_001129765.2:c.415-42G>A NP_001123237.1:n.415-42G>A
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