Canonical Allele Identifier: CA2005869813
Community Standard Title: NM_001040151.2(SCN3B):c.389C= (p.Ala130=)
Gene: SCN3B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.123642502G= , CM000673.2:g.123642502G= GRCh38
NC_000011.9:g.123513210G= , CM000673.1:g.123513210G= GRCh37
NC_000011.8:g.123018420G= NCBI36
NG_016283.1:g.17106C= , LRG_421:g.17106C=

Transcript Alleles

HGVS Amino-acid Change
NM_001040151.2:c.389C= MANE Select NP_001035241.1:p.Ala130=
ENST00000299333.8:c.389C= MANE Select ENSP00000299333.3:p.Ala130=
NM_001040151.1:c.389C= NP_001035241.1:p.Ala130=
NM_018400.3:c.389C= , LRG_421t1:c.389C= NP_060870.1:p.Ala130=
NM_018400.4:c.389C= NP_060870.1:p.Ala130=
ENST00000299333.7:c.389C= ENSP00000299333.3:p.Ala130=
ENST00000392770.6:c.389C= ENSP00000376523.2:p.Ala130=
ENST00000527836.5:c.389C= ENSP00000435554.1:p.Ala130=
ENST00000530277.5:c.389C= ENSP00000432785.1:p.Ala130=
ENST00000657123.1:c.389C= ENSP00000499439.1:p.Ala130=
ENST00000657191.1:c.389C= ENSP00000499755.1:p.Ala130=
ENST00000659826.1:c.85C=
ENST00000667790.1:c.389C= ENSP00000499234.1:p.Ala130=
XM_011542897.1:c.389C= XP_011541199.1:p.Ala130=
XM_011542897.2:c.389C= XP_011541199.1:p.Ala130=
XR_947858.1:n.796C=