Canonical Allele Identifier: CA383073363
Community Standard Title: NM_001040151.2(SCN3B):c.29T>A (p.Leu10Gln)
Gene: SCN3B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.123653773A>T , CM000673.2:g.123653773A>T GRCh38
NC_000011.9:g.123524481A>T , CM000673.1:g.123524481A>T GRCh37
NC_000011.8:g.123029691A>T NCBI36
NG_016283.1:g.5835T>A , LRG_421:g.5835T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001040151.2:c.29T>A MANE Select NP_001035241.1:p.Leu10Gln
ENST00000299333.8:c.29T>A MANE Select ENSP00000299333.3:p.Leu10Gln
NM_001040151.1:c.29T>A NP_001035241.1:p.Leu10Gln
NM_018400.3:c.29T>A , LRG_421t1:c.29T>A NP_060870.1:p.Leu10Gln
NM_018400.4:c.29T>A NP_060870.1:p.Leu10Gln
ENST00000299333.7:c.29T>A ENSP00000299333.3:p.Leu10Gln
ENST00000392770.6:c.29T>A ENSP00000376523.2:p.Leu10Gln
ENST00000527836.5:c.29T>A ENSP00000435554.1:p.Leu10Gln
ENST00000528267.1:c.29T>A ENSP00000434363.1:p.Leu10Gln
ENST00000530277.5:c.29T>A ENSP00000432785.1:p.Leu10Gln
ENST00000657123.1:c.29T>A ENSP00000499439.1:p.Leu10Gln
ENST00000657191.1:c.29T>A ENSP00000499755.1:p.Leu10Gln
ENST00000667790.1:c.29T>A ENSP00000499234.1:p.Leu10Gln
XM_011542897.1:c.29T>A XP_011541199.1:p.Leu10Gln
XM_011542897.2:c.29T>A XP_011541199.1:p.Leu10Gln
XR_947858.1:n.436T>A
XR_948124.3:n.2046A>T