Canonical Allele Identifier: CA1714370810
Community Standard Title: NM_016038.4(SBDS):c.624+1G=
Gene: SBDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66991136C= , CM000669.2:g.66991136C= GRCh38
NC_000007.13:g.66456123C= , CM000669.1:g.66456123C= GRCh37
NC_000007.12:g.66093558C= NCBI36
NG_007277.1:g.9466G= , LRG_104:g.9466G=

Transcript Alleles

HGVS Amino-acid Change
NM_016038.4:c.624+1G= MANE Select NP_057122.2:n.624+1G=
ENST00000246868.7:c.624+1G= MANE Select ENSP00000246868.2:n.624+1G=
NM_016038.2:c.624+1G= , LRG_104t1:c.624+1G= NP_057122.2:n.624+1G=
NM_016038.3:c.624+1G= NP_057122.2:n.624+1G=
ENST00000246868.6:c.624+1G= ENSP00000246868.2:n.624+1G=
ENST00000414306.5:c.*355+1G= ENSP00000394586.1:n.*355+1G=
ENST00000414306.6:c.*355+1G= ENSP00000394586.1:n.*355+1G=
ENST00000490953.5:n.766G=
ENST00000617799.1:c.624+1G= ENSP00000483040.1:n.624+1G=
ENST00000697860.1:n.591+1G=
ENST00000697861.1:c.423+1G= ENSP00000513460.1:n.423+1G=
ENST00000697862.1:c.*65+1G= ENSP00000513461.1:n.*65+1G=
ENST00000697863.1:c.567+1G= ENSP00000513462.1:n.567+1G=
ENST00000697864.1:n.1768+1G=
ENST00000697865.1:c.567+1G= ENSP00000513463.1:n.567+1G=
ENST00000697866.1:c.306+1G= ENSP00000513464.1:n.306+1G=
ENST00000697867.1:c.464+1G=
ENST00000697868.1:c.*388+1G= ENSP00000513466.1:n.*388+1G=
ENST00000697897.1:c.624+1G= ENSP00000513469.1:n.624+1G=