Canonical Allele Identifier: CA2466153865
Gene: NSDHL HGNC NCBI

Linked Data

dbSNP Id: rs56228545

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.152867489C>G , CM000685.2:g.152867489C>G GRCh38
NC_000023.10:g.152036033C>G , CM000685.1:g.152036033C>G GRCh37
NC_000023.9:g.151786689C>G NCBI36
NG_009163.1:g.41523C>G
NG_009163.2:g.41523C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370274.8:c.687-82C>G MANE Select ENSP00000359297.3:n.687-82C>G
ENST00000370274.7:c.687-82C>G ENSP00000359297.3:n.687-82C>G
ENST00000432467.1:c.687-82C>G ENSP00000396266.1:n.687-82C>G
ENST00000440023.5:c.687-82C>G ENSP00000391854.1:n.687-82C>G
NM_001129765.1:c.687-82C>G NP_001123237.1:n.687-82C>G
NM_015922.2:c.687-82C>G NP_057006.1:n.687-82C>G
XM_011531178.1:c.687-82C>G XP_011529480.1:n.687-82C>G
XM_011531178.2:c.687-82C>G XP_011529480.1:n.687-82C>G
XM_017029564.1:c.735-82C>G XP_016885053.1:n.735-82C>G
NM_015922.3:c.687-82C>G MANE Select NP_057006.1:n.687-82C>G
NM_001129765.2:c.687-82C>G NP_001123237.1:n.687-82C>G