Canonical Allele Identifier: CA2333467013
Community Standard Title: NM_001037.5(SCN1B):c.308A= (p.Asp103=)
Gene: SCN1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35033599A= , CM000681.2:g.35033599A= GRCh38
NC_000019.9:g.35524503A= , CM000681.1:g.35524503A= GRCh37
NC_000019.8:g.40216343A= NCBI36
NG_013359.1:g.7912A=

Transcript Alleles

HGVS Amino-acid Change
NM_001037.5:c.308A= MANE Select NP_001028.1:p.Asp103=
ENST00000262631.11:c.308A= MANE Select ENSP00000262631.3:p.Asp103=
NM_001037.4:c.308A= NP_001028.1:p.Asp103=
NM_001321605.1:c.209A= NP_001308534.1:p.Asp70=
NM_001321605.2:c.209A= NP_001308534.1:p.Asp70=
NM_199037.3:c.308A= NP_950238.1:p.Asp103=
NM_199037.4:c.308A= NP_950238.1:p.Asp103=
NM_199037.5:c.308A= NP_950238.1:p.Asp103=
ENST00000262631.9:c.308A= ENSP00000262631.3:p.Asp103=
ENST00000415950.3:c.308A= ENSP00000396915.2:p.Asp103=
ENST00000415950.4:c.308A= ENSP00000396915.2:p.Asp103=
ENST00000415950.5:c.308A= ENSP00000396915.2:p.Asp103=
ENST00000595652.5:c.208-113A= ENSP00000468848.1:n.208-113A=
ENST00000596348.1:n.317A=
ENST00000596348.2:c.209A= ENSP00000492247.1:p.Asp70=
ENST00000638536.1:c.308A= ENSP00000492022.1:p.Asp103=
ENST00000640135.1:c.209A= ENSP00000492655.1:p.Asp70=
ENST00000675741.1:c.209A= ENSP00000502395.1:p.Asp70=
ENST00000676410.1:c.209A= ENSP00000502717.1:p.Asp70=
XM_005259144.1:c.209A= XP_005259201.1:p.Asp70=