Canonical Allele Identifier: CA1714332668
Community Standard Title: NM_016038.4(SBDS):c.184A= (p.Lys62=)
Gene: SBDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66994286T= , CM000669.2:g.66994286T= GRCh38
NC_000007.13:g.66459273T= , CM000669.1:g.66459273T= GRCh37
NC_000007.12:g.66096708T= NCBI36
NG_007277.1:g.6316A= , LRG_104:g.6316A=
NG_033069.1:g.2482T=

Transcript Alleles

HGVS Amino-acid Change
NM_016038.4:c.184A= MANE Select NP_057122.2:p.Lys62=
ENST00000246868.7:c.184A= MANE Select ENSP00000246868.2:p.Lys62=
NM_016038.2:c.184A= , LRG_104t1:c.184A= NP_057122.2:p.Lys62=
NM_016038.3:c.184A= NP_057122.2:p.Lys62=
ENST00000246868.6:c.184A= ENSP00000246868.2:p.Lys62=
ENST00000414306.5:c.184A= ENSP00000394586.1:p.Lys62=
ENST00000414306.6:c.184A= ENSP00000394586.1:p.Lys62=
ENST00000463579.1:n.81A=
ENST00000490953.5:n.333A=
ENST00000617799.1:c.184A= ENSP00000483040.1:p.Lys62=
ENST00000697860.1:n.151A=
ENST00000697861.1:c.184A= ENSP00000513460.1:p.Lys62=
ENST00000697862.1:c.184A= ENSP00000513461.1:p.Lys62=
ENST00000697863.1:c.127A= ENSP00000513462.1:p.Lys43=
ENST00000697864.1:n.1328A=
ENST00000697865.1:c.127A= ENSP00000513463.1:p.Lys43=
ENST00000697866.1:c.-135A= ENSP00000513464.1:n.-135A=
ENST00000697867.1:c.24A=
ENST00000697868.1:c.129-4A= ENSP00000513466.1:n.129-4A=
ENST00000697869.1:c.129-9A= ENSP00000513467.1:n.129-9A=
ENST00000697897.1:c.184A= ENSP00000513469.1:p.Lys62=