Canonical Allele Identifier: CA455780126

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66458378T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993391T>A , CM000669.2:g.66993391T>A	GRCh38
NC_000007.13:g.66458378T>A , CM000669.1:g.66458378T>A	GRCh37
NC_000007.12:g.66095813T>A	NCBI36
NG_007277.1:g.7211A>T , LRG_104:g.7211A>T
NG_033069.1:g.1587T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*16A>T	ENSP00000394586.1:n.*16A>T
ENST00000697860.1:n.252A>T
ENST00000697861.1:c.258+821A>T	ENSP00000513460.1:n.258+821A>T
ENST00000697862.1:c.285A>T	ENSP00000513461.1:p.Val95=
ENST00000697863.1:c.228A>T	ENSP00000513462.1:p.Val76=
ENST00000697864.1:n.1429A>T
ENST00000697865.1:c.228A>T	ENSP00000513463.1:p.Val76=
ENST00000697866.1:c.-34A>T	ENSP00000513464.1:n.-34A>T
ENST00000697867.1:c.125A>T
ENST00000697868.1:c.*49A>T	ENSP00000513466.1:n.*49A>T
ENST00000697869.1:c.*20A>T	ENSP00000513467.1:n.*20A>T
ENST00000697897.1:c.285A>T	ENSP00000513469.1:p.Val95=
ENST00000246868.7:c.285A>T MANE Select	ENSP00000246868.2:p.Val95=
ENST00000246868.6:c.285A>T	ENSP00000246868.2:p.Val95=
ENST00000414306.5:c.*16A>T	ENSP00000394586.1:n.*16A>T
ENST00000463579.1:n.174A>T
ENST00000490953.5:n.426A>T
ENST00000617799.1:c.285A>T	ENSP00000483040.1:p.Val95=
NM_016038.2:c.285A>T , LRG_104t1:c.285A>T	NP_057122.2:p.Val95=
NM_016038.3:c.285A>T	NP_057122.2:p.Val95=
NM_016038.4:c.285A>T MANE Select	NP_057122.2:p.Val95=