Canonical Allele Identifier: CA1102476693

Gene: SBDS

Linked Data

• dbSNP Id: rs1793018875
• gnomAD v3: 7-66993459-C-T
• gnomAD v4: 7-66993459-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993459C>T , CM000669.2:g.66993459C>T	GRCh38
NC_000007.13:g.66458446C>T , CM000669.1:g.66458446C>T	GRCh37
NC_000007.12:g.66095881C>T	NCBI36
NG_007277.1:g.7143G>A , LRG_104:g.7143G>A
NG_033069.1:g.1655C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.251-42G>A	ENSP00000394586.1:n.251-42G>A
ENST00000697860.1:n.226-42G>A
ENST00000697861.1:c.258+753G>A	ENSP00000513460.1:n.258+753G>A
ENST00000697862.1:c.259-42G>A	ENSP00000513461.1:n.259-42G>A
ENST00000697863.1:c.202-42G>A	ENSP00000513462.1:n.202-42G>A
ENST00000697864.1:n.1403-42G>A
ENST00000697865.1:c.202-42G>A	ENSP00000513463.1:n.202-42G>A
ENST00000697866.1:c.-60-42G>A	ENSP00000513464.1:n.-60-42G>A
ENST00000697867.1:c.99-42G>A
ENST00000697868.1:c.*23-42G>A	ENSP00000513466.1:n.*23-42G>A
ENST00000697869.1:c.195-42G>A	ENSP00000513467.1:n.195-42G>A
ENST00000697897.1:c.259-42G>A	ENSP00000513469.1:n.259-42G>A
ENST00000246868.7:c.259-42G>A MANE Select	ENSP00000246868.2:n.259-42G>A
ENST00000246868.6:c.259-42G>A	ENSP00000246868.2:n.259-42G>A
ENST00000414306.5:c.251-42G>A	ENSP00000394586.1:n.251-42G>A
ENST00000463579.1:n.148-42G>A
ENST00000490953.5:n.400-42G>A
ENST00000617799.1:c.259-42G>A	ENSP00000483040.1:n.259-42G>A
NM_016038.2:c.259-42G>A , LRG_104t1:c.259-42G>A	NP_057122.2:n.259-42G>A
NM_016038.3:c.259-42G>A	NP_057122.2:n.259-42G>A
NM_016038.4:c.259-42G>A MANE Select	NP_057122.2:n.259-42G>A