Canonical Allele Identifier: CA455780094

Gene: SBDS

Linked Data

• gnomAD v4: 7-66993361-C-T
• MyVariant Identifiers: chr7:g.66458348C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993361C>T , CM000669.2:g.66993361C>T	GRCh38
NC_000007.13:g.66458348C>T , CM000669.1:g.66458348C>T	GRCh37
NC_000007.12:g.66095783C>T	NCBI36
NG_007277.1:g.7241G>A , LRG_104:g.7241G>A
NG_033069.1:g.1557C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*46G>A	ENSP00000394586.1:n.*46G>A
ENST00000697860.1:n.282G>A
ENST00000697861.1:c.258+851G>A	ENSP00000513460.1:n.258+851G>A
ENST00000697862.1:c.315G>A	ENSP00000513461.1:p.Glu105=
ENST00000697863.1:c.258G>A	ENSP00000513462.1:p.Glu86=
ENST00000697864.1:n.1459G>A
ENST00000697865.1:c.258G>A	ENSP00000513463.1:p.Glu86=
ENST00000697866.1:c.-4G>A	ENSP00000513464.1:n.-4G>A
ENST00000697867.1:c.155G>A
ENST00000697868.1:c.*79G>A	ENSP00000513466.1:n.*79G>A
ENST00000697869.1:c.*50G>A	ENSP00000513467.1:n.*50G>A
ENST00000697897.1:c.315G>A	ENSP00000513469.1:p.Glu105=
ENST00000246868.7:c.315G>A MANE Select	ENSP00000246868.2:p.Glu105=
ENST00000246868.6:c.315G>A	ENSP00000246868.2:p.Glu105=
ENST00000414306.5:c.*46G>A	ENSP00000394586.1:n.*46G>A
ENST00000463579.1:n.204G>A
ENST00000490953.5:n.456G>A
ENST00000617799.1:c.315G>A	ENSP00000483040.1:p.Glu105=
NM_016038.2:c.315G>A , LRG_104t1:c.315G>A	NP_057122.2:p.Glu105=
NM_016038.3:c.315G>A	NP_057122.2:p.Glu105=
NM_016038.4:c.315G>A MANE Select	NP_057122.2:p.Glu105=