Canonical Allele Identifier: CA255884
Gene: NSDHL HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.152865819G>C
GRCh37 chrX:g.152034363G>C
Revel Score:
ENST00000370274 (MANE Select) 0.632
ENST00000440023 0.632
ENST00000432467 0.632
ClinVar RCV:
RCV000012183
ClinVar Variation:
11430
dbSNP:
104894904
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152865819G>C , CM000685.2:g.152865819G>C GRCh38
NC_000023.10:g.152034363G>C , CM000685.1:g.152034363G>C GRCh37
NC_000023.9:g.151785019G>C NCBI36
NG_009163.1:g.39853G>C
NG_009163.2:g.39853G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370274.8:c.544G>C MANE Select ENSP00000359297.3:p.Ala182Pro
ENST00000370274.7:c.544G>C ENSP00000359297.3:p.Ala182Pro
ENST00000432467.1:c.544G>C ENSP00000396266.1:p.Ala182Pro
ENST00000440023.5:c.544G>C ENSP00000391854.1:p.Ala182Pro
NM_001129765.1:c.544G>C NP_001123237.1:p.Ala182Pro
NM_015922.2:c.544G>C NP_057006.1:p.Ala182Pro
XM_011531178.1:c.544G>C XP_011529480.1:p.Ala182Pro
XM_011531178.2:c.544G>C XP_011529480.1:p.Ala182Pro
XM_017029564.1:c.592G>C XP_016885053.1:p.Ala198Pro
NM_015922.3:c.544G>C MANE Select NP_057006.1:p.Ala182Pro
NM_001129765.2:c.544G>C NP_001123237.1:p.Ala182Pro
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