Canonical Allele Identifier: CA367650458

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66458359T>A (hg19) ; chr7:g.66993372T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993372T>A , CM000669.2:g.66993372T>A	GRCh38
NC_000007.13:g.66458359T>A , CM000669.1:g.66458359T>A	GRCh37
NC_000007.12:g.66095794T>A	NCBI36
NG_007277.1:g.7230A>T , LRG_104:g.7230A>T
NG_033069.1:g.1568T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*35A>T	ENSP00000394586.1:n.*35A>T
ENST00000697860.1:n.271A>T
ENST00000697861.1:c.258+840A>T	ENSP00000513460.1:n.258+840A>T
ENST00000697862.1:c.304A>T	ENSP00000513461.1:p.Thr102Ser
ENST00000697863.1:c.247A>T	ENSP00000513462.1:p.Thr83Ser
ENST00000697864.1:n.1448A>T
ENST00000697865.1:c.247A>T	ENSP00000513463.1:p.Thr83Ser
ENST00000697866.1:c.-15A>T	ENSP00000513464.1:n.-15A>T
ENST00000697867.1:c.144A>T
ENST00000697868.1:c.*68A>T	ENSP00000513466.1:n.*68A>T
ENST00000697869.1:c.*39A>T	ENSP00000513467.1:n.*39A>T
ENST00000697897.1:c.304A>T	ENSP00000513469.1:p.Thr102Ser
ENST00000246868.7:c.304A>T MANE Select	ENSP00000246868.2:p.Thr102Ser
ENST00000246868.6:c.304A>T	ENSP00000246868.2:p.Thr102Ser
ENST00000414306.5:c.*35A>T	ENSP00000394586.1:n.*35A>T
ENST00000463579.1:n.193A>T
ENST00000490953.5:n.445A>T
ENST00000617799.1:c.304A>T	ENSP00000483040.1:p.Thr102Ser
NM_016038.2:c.304A>T , LRG_104t1:c.304A>T	NP_057122.2:p.Thr102Ser
NM_016038.3:c.304A>T	NP_057122.2:p.Thr102Ser
NM_016038.4:c.304A>T MANE Select	NP_057122.2:p.Thr102Ser