Canonical Allele Identifier: CA1714331593
Gene: SBDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66993425A= , CM000669.2:g.66993425A= GRCh38
NC_000007.13:g.66458412A= , CM000669.1:g.66458412A= GRCh37
NC_000007.12:g.66095847A= NCBI36
NG_007277.1:g.7177T= , LRG_104:g.7177T=
NG_033069.1:g.1621A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000414306.6:c.251-8T= ENSP00000394586.1:n.251-8T=
ENST00000697860.1:n.226-8T=
ENST00000697861.1:c.258+787T= ENSP00000513460.1:n.258+787T=
ENST00000697862.1:c.259-8T= ENSP00000513461.1:n.259-8T=
ENST00000697863.1:c.202-8T= ENSP00000513462.1:n.202-8T=
ENST00000697864.1:n.1403-8T=
ENST00000697865.1:c.202-8T= ENSP00000513463.1:n.202-8T=
ENST00000697866.1:c.-60-8T= ENSP00000513464.1:n.-60-8T=
ENST00000697867.1:c.99-8T=
ENST00000697868.1:c.*23-8T= ENSP00000513466.1:n.*23-8T=
ENST00000697869.1:c.195-8T= ENSP00000513467.1:n.195-8T=
ENST00000697897.1:c.259-8T= ENSP00000513469.1:n.259-8T=
ENST00000246868.7:c.259-8T= MANE Select ENSP00000246868.2:n.259-8T=
ENST00000246868.6:c.259-8T= ENSP00000246868.2:n.259-8T=
ENST00000414306.5:c.251-8T= ENSP00000394586.1:n.251-8T=
ENST00000463579.1:n.148-8T=
ENST00000490953.5:n.400-8T=
ENST00000617799.1:c.259-8T= ENSP00000483040.1:n.259-8T=
NM_016038.2:c.259-8T= , LRG_104t1:c.259-8T= NP_057122.2:n.259-8T=
NM_016038.3:c.259-8T= NP_057122.2:n.259-8T=
NM_016038.4:c.259-8T= MANE Select NP_057122.2:n.259-8T=