Canonical Allele Identifier: CA2683133607

Gene: SBDS

Linked Data

• gnomAD v4: 7-66993203-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993203G>A , CM000669.2:g.66993203G>A	GRCh38
NC_000007.13:g.66458190G>A , CM000669.1:g.66458190G>A	GRCh37
NC_000007.12:g.66095625G>A	NCBI36
NG_007277.1:g.7399C>T , LRG_104:g.7399C>T
NG_033069.1:g.1399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*190+14C>T	ENSP00000394586.1:n.*190+14C>T
ENST00000697860.1:n.426+14C>T
ENST00000697861.1:c.258+1009C>T	ENSP00000513460.1:n.258+1009C>T
ENST00000697862.1:c.459+14C>T	ENSP00000513461.1:n.459+14C>T
ENST00000697863.1:c.402+14C>T	ENSP00000513462.1:n.402+14C>T
ENST00000697864.1:n.1603+14C>T
ENST00000697865.1:c.402+14C>T	ENSP00000513463.1:n.402+14C>T
ENST00000697866.1:c.141+14C>T	ENSP00000513464.1:n.141+14C>T
ENST00000697867.1:c.299+14C>T
ENST00000697868.1:c.*223+14C>T	ENSP00000513466.1:n.*223+14C>T
ENST00000697869.1:c.*194+14C>T	ENSP00000513467.1:n.*194+14C>T
ENST00000697897.1:c.459+14C>T	ENSP00000513469.1:n.459+14C>T
ENST00000246868.7:c.459+14C>T MANE Select	ENSP00000246868.2:n.459+14C>T
ENST00000246868.6:c.459+14C>T	ENSP00000246868.2:n.459+14C>T
ENST00000414306.5:c.*190+14C>T	ENSP00000394586.1:n.*190+14C>T
ENST00000463579.1:n.348+14C>T
ENST00000490953.5:n.600+14C>T
ENST00000617799.1:c.459+14C>T	ENSP00000483040.1:n.459+14C>T
NM_016038.2:c.459+14C>T , LRG_104t1:c.459+14C>T	NP_057122.2:n.459+14C>T
NM_016038.3:c.459+14C>T	NP_057122.2:n.459+14C>T
NM_016038.4:c.459+14C>T MANE Select	NP_057122.2:n.459+14C>T