Canonical Allele Identifier: CA415287495
Gene: NSDHL HGNC NCBI

Linked Data

ClinVar Variation Id: 2687770
ClinVar RCV Id: RCV003485008
dbSNP Id: rs1569475560
gnomAD v2: X-152037548-A-G
gnomAD v3: X-152869004-A-G
gnomAD v4: X-152869004-A-G
MyVariant Identifiers: chrX:g.152037548A>G (hg19) chrX:g.152869004A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152869004A>G , CM000685.2:g.152869004A>G GRCh38
NC_000023.10:g.152037548A>G , CM000685.1:g.152037548A>G GRCh37
NC_000023.9:g.151788204A>G NCBI36
NG_009163.1:g.43038A>G
NG_009163.2:g.43038A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370274.8:c.1010A>G MANE Select ENSP00000359297.3:p.Tyr337Cys
ENST00000370274.7:c.1010A>G ENSP00000359297.3:p.Tyr337Cys
ENST00000440023.5:c.1010A>G ENSP00000391854.1:p.Tyr337Cys
NM_001129765.1:c.1010A>G NP_001123237.1:p.Tyr337Cys
NM_015922.2:c.1010A>G NP_057006.1:p.Tyr337Cys
XM_011531178.1:c.1010A>G XP_011529480.1:p.Tyr337Cys
XM_011531178.2:c.1010A>G XP_011529480.1:p.Tyr337Cys
XM_017029564.1:c.1058A>G XP_016885053.1:p.Tyr353Cys
NM_015922.3:c.1010A>G MANE Select NP_057006.1:p.Tyr337Cys
NM_001129765.2:c.1010A>G NP_001123237.1:p.Tyr337Cys
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