Canonical Allele Identifier: CA367650607

Gene: SBDS

Linked Data

• dbSNP Id: rs1793017062
• gnomAD v3: 7-66993385-A-T
• gnomAD v4: 7-66993385-A-T
• MyVariant Identifiers: chr7:g.66458372A>T (hg19) ; chr7:g.66993385A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993385A>T , CM000669.2:g.66993385A>T	GRCh38
NC_000007.13:g.66458372A>T , CM000669.1:g.66458372A>T	GRCh37
NC_000007.12:g.66095807A>T	NCBI36
NG_007277.1:g.7217T>A , LRG_104:g.7217T>A
NG_033069.1:g.1581A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*22T>A	ENSP00000394586.1:n.*22T>A
ENST00000697860.1:n.258T>A
ENST00000697861.1:c.258+827T>A	ENSP00000513460.1:n.258+827T>A
ENST00000697862.1:c.291T>A	ENSP00000513461.1:p.Asp97Glu
ENST00000697863.1:c.234T>A	ENSP00000513462.1:p.Asp78Glu
ENST00000697864.1:n.1435T>A
ENST00000697865.1:c.234T>A	ENSP00000513463.1:p.Asp78Glu
ENST00000697866.1:c.-28T>A	ENSP00000513464.1:n.-28T>A
ENST00000697867.1:c.131T>A
ENST00000697868.1:c.*55T>A	ENSP00000513466.1:n.*55T>A
ENST00000697869.1:c.*26T>A	ENSP00000513467.1:n.*26T>A
ENST00000697897.1:c.291T>A	ENSP00000513469.1:p.Asp97Glu
ENST00000246868.7:c.291T>A MANE Select	ENSP00000246868.2:p.Asp97Glu
ENST00000246868.6:c.291T>A	ENSP00000246868.2:p.Asp97Glu
ENST00000414306.5:c.*22T>A	ENSP00000394586.1:n.*22T>A
ENST00000463579.1:n.180T>A
ENST00000490953.5:n.432T>A
ENST00000617799.1:c.291T>A	ENSP00000483040.1:p.Asp97Glu
NM_016038.2:c.291T>A , LRG_104t1:c.291T>A	NP_057122.2:p.Asp97Glu
NM_016038.3:c.291T>A	NP_057122.2:p.Asp97Glu
NM_016038.4:c.291T>A MANE Select	NP_057122.2:p.Asp97Glu