LDH info

Canonical Allele Identifier: CA203839
Gene: SCN1B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9252
dbSNP Id: rs104894718

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35033654C>G , CM000681.2:g.35033654C>G GRCh38
NC_000019.9:g.35524558C>G , CM000681.1:g.35524558C>G GRCh37
NC_000019.8:g.40216398C>G NCBI36
NG_013359.1:g.7967C>G

Transcript Alleles

HGVS Amino-acid change
NM_001037.4:c.363C>G VV NP_001028.1:p.Cys121Trp
NM_199037.3:c.363C>G VV NP_950238.1:p.Cys121Trp
XM_005259144.1:c.264C>G XP_005259201.1:p.Cys88Trp
NM_001321605.1:c.264C>G VV NP_001308534.1:p.Cys88Trp
NM_199037.4:c.363C>G VV NP_950238.1:p.Cys121Trp
NM_001037.5:c.363C>G VV MANE Preferred NP_001028.1:p.Cys121Trp
NM_001321605.2:c.264C>G VV NP_001308534.1:p.Cys88Trp
NM_199037.5:c.363C>G VV NP_950238.1:p.Cys121Trp
ENST00000262631.9:c.363C>G ENSP00000262631.3:p.Cys121Trp
ENST00000415950.3:n.363C>G ENSP00000396915.2:p.Cys121Trp
ENST00000595652.5:c.208-58C>G ENSP00000468848.1:p.=
ENST00000596348.1:n.372C>G