Canonical Allele Identifier: CA367650630

Gene: SBDS

Linked Data

• gnomAD v4: 7-66993387-C-A
• MyVariant Identifiers: chr7:g.66458374C>A (hg19) ; chr7:g.66993387C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993387C>A , CM000669.2:g.66993387C>A	GRCh38
NC_000007.13:g.66458374C>A , CM000669.1:g.66458374C>A	GRCh37
NC_000007.12:g.66095809C>A	NCBI36
NG_007277.1:g.7215G>T , LRG_104:g.7215G>T
NG_033069.1:g.1583C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*20G>T	ENSP00000394586.1:n.*20G>T
ENST00000697860.1:n.256G>T
ENST00000697861.1:c.258+825G>T	ENSP00000513460.1:n.258+825G>T
ENST00000697862.1:c.289G>T	ENSP00000513461.1:p.Asp97Tyr
ENST00000697863.1:c.232G>T	ENSP00000513462.1:p.Asp78Tyr
ENST00000697864.1:n.1433G>T
ENST00000697865.1:c.232G>T	ENSP00000513463.1:p.Asp78Tyr
ENST00000697866.1:c.-30G>T	ENSP00000513464.1:n.-30G>T
ENST00000697867.1:c.129G>T
ENST00000697868.1:c.*53G>T	ENSP00000513466.1:n.*53G>T
ENST00000697869.1:c.*24G>T	ENSP00000513467.1:n.*24G>T
ENST00000697897.1:c.289G>T	ENSP00000513469.1:p.Asp97Tyr
ENST00000246868.7:c.289G>T MANE Select	ENSP00000246868.2:p.Asp97Tyr
ENST00000246868.6:c.289G>T	ENSP00000246868.2:p.Asp97Tyr
ENST00000414306.5:c.*20G>T	ENSP00000394586.1:n.*20G>T
ENST00000463579.1:n.178G>T
ENST00000490953.5:n.430G>T
ENST00000617799.1:c.289G>T	ENSP00000483040.1:p.Asp97Tyr
NM_016038.2:c.289G>T , LRG_104t1:c.289G>T	NP_057122.2:p.Asp97Tyr
NM_016038.3:c.289G>T	NP_057122.2:p.Asp97Tyr
NM_016038.4:c.289G>T MANE Select	NP_057122.2:p.Asp97Tyr