Canonical Allele Identifier: CA367650453

Gene: SBDS

Linked Data

• gnomAD v4: 7-66993371-G-A
• MyVariant Identifiers: chr7:g.66458358G>A (hg19) ; chr7:g.66993371G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993371G>A , CM000669.2:g.66993371G>A	GRCh38
NC_000007.13:g.66458358G>A , CM000669.1:g.66458358G>A	GRCh37
NC_000007.12:g.66095793G>A	NCBI36
NG_007277.1:g.7231C>T , LRG_104:g.7231C>T
NG_033069.1:g.1567G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*36C>T	ENSP00000394586.1:n.*36C>T
ENST00000697860.1:n.272C>T
ENST00000697861.1:c.258+841C>T	ENSP00000513460.1:n.258+841C>T
ENST00000697862.1:c.305C>T	ENSP00000513461.1:p.Thr102Ile
ENST00000697863.1:c.248C>T	ENSP00000513462.1:p.Thr83Ile
ENST00000697864.1:n.1449C>T
ENST00000697865.1:c.248C>T	ENSP00000513463.1:p.Thr83Ile
ENST00000697866.1:c.-14C>T	ENSP00000513464.1:n.-14C>T
ENST00000697867.1:c.145C>T
ENST00000697868.1:c.*69C>T	ENSP00000513466.1:n.*69C>T
ENST00000697869.1:c.*40C>T	ENSP00000513467.1:n.*40C>T
ENST00000697897.1:c.305C>T	ENSP00000513469.1:p.Thr102Ile
ENST00000246868.7:c.305C>T MANE Select	ENSP00000246868.2:p.Thr102Ile
ENST00000246868.6:c.305C>T	ENSP00000246868.2:p.Thr102Ile
ENST00000414306.5:c.*36C>T	ENSP00000394586.1:n.*36C>T
ENST00000463579.1:n.194C>T
ENST00000490953.5:n.446C>T
ENST00000617799.1:c.305C>T	ENSP00000483040.1:p.Thr102Ile
NM_016038.2:c.305C>T , LRG_104t1:c.305C>T	NP_057122.2:p.Thr102Ile
NM_016038.3:c.305C>T	NP_057122.2:p.Thr102Ile
NM_016038.4:c.305C>T MANE Select	NP_057122.2:p.Thr102Ile