Canonical Allele Identifier: CA1714331288

Gene: SBDS

Linked Data

• dbSNP Id: rs1562954934
• gnomAD v4: 7-66993200-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993200C>T , CM000669.2:g.66993200C>T	GRCh38
NC_000007.13:g.66458187C>T , CM000669.1:g.66458187C>T	GRCh37
NC_000007.12:g.66095622C>T	NCBI36
NG_007277.1:g.7402G>A , LRG_104:g.7402G>A
NG_033069.1:g.1396C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*190+17G>A	ENSP00000394586.1:n.*190+17G>A
ENST00000697860.1:n.426+17G>A
ENST00000697861.1:c.258+1012G>A	ENSP00000513460.1:n.258+1012G>A
ENST00000697862.1:c.459+17G>A	ENSP00000513461.1:n.459+17G>A
ENST00000697863.1:c.402+17G>A	ENSP00000513462.1:n.402+17G>A
ENST00000697864.1:n.1603+17G>A
ENST00000697865.1:c.402+17G>A	ENSP00000513463.1:n.402+17G>A
ENST00000697866.1:c.141+17G>A	ENSP00000513464.1:n.141+17G>A
ENST00000697867.1:c.299+17G>A
ENST00000697868.1:c.*223+17G>A	ENSP00000513466.1:n.*223+17G>A
ENST00000697869.1:c.*194+17G>A	ENSP00000513467.1:n.*194+17G>A
ENST00000697897.1:c.459+17G>A	ENSP00000513469.1:n.459+17G>A
ENST00000246868.7:c.459+17G>A MANE Select	ENSP00000246868.2:n.459+17G>A
ENST00000246868.6:c.459+17G>A	ENSP00000246868.2:n.459+17G>A
ENST00000414306.5:c.*190+17G>A	ENSP00000394586.1:n.*190+17G>A
ENST00000463579.1:n.348+17G>A
ENST00000490953.5:n.600+17G>A
ENST00000617799.1:c.459+17G>A	ENSP00000483040.1:n.459+17G>A
NM_016038.2:c.459+17G>A , LRG_104t1:c.459+17G>A	NP_057122.2:n.459+17G>A
NM_016038.3:c.459+17G>A	NP_057122.2:n.459+17G>A
NM_016038.4:c.459+17G>A MANE Select	NP_057122.2:n.459+17G>A