Canonical Allele Identifier: CA403461146
Community Standard Title: NM_032108.4(SEMA6B):c.2138C>T (p.Thr713Met)
Gene: SEMA6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4544130G>A , CM000681.2:g.4544130G>A GRCh38
NC_000019.9:g.4544142G>A , CM000681.1:g.4544142G>A GRCh37
NC_000019.8:g.4495142G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_032108.4:c.2138C>T MANE Select NP_115484.2:p.Thr713Met
ENST00000586582.6:c.2138C>T MANE Select ENSP00000467290.1:p.Thr713Met
NM_032108.3:c.2138C>T NP_115484.2:p.Thr713Met
ENST00000586582.5:c.2138C>T ENSP00000467290.1:p.Thr713Met
ENST00000586965.1:c.1851+287C>T ENSP00000465722.1:n.1851+287C>T
ENST00000676793.1:c.2138C>T ENSP00000503414.1:p.Thr713Met
ENST00000677828.1:c.*1400C>T ENSP00000503277.1:n.*1400C>T
XM_011527639.1:c.2156C>T XP_011525941.1:p.Thr719Met
XM_011527639.2:c.2156C>T XP_011525941.1:p.Thr719Met
XM_011527640.1:c.2156C>T XP_011525942.1:p.Thr719Met
XM_011527640.2:c.2156C>T XP_011525942.1:p.Thr719Met