Canonical Allele Identifier: CA367644538

Gene: SBDS

Linked Data

• dbSNP Id: rs1792913985
• gnomAD v4: 7-66988477-C-T
• MyVariant Identifiers: chr7:g.66453464C>T (hg19) ; chr7:g.66988477C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988477C>T , CM000669.2:g.66988477C>T	GRCh38
NC_000007.13:g.66453464C>T , CM000669.1:g.66453464C>T	GRCh37
NC_000007.12:g.66090899C>T	NCBI36
NG_007277.1:g.12125G>A , LRG_104:g.12125G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*378G>A	ENSP00000394586.1:n.*378G>A
ENST00000697860.1:n.614G>A
ENST00000697861.1:c.446G>A	ENSP00000513460.1:p.Cys149Tyr
ENST00000697862.1:c.*88G>A	ENSP00000513461.1:n.*88G>A
ENST00000697863.1:c.590G>A	ENSP00000513462.1:p.Cys197Tyr
ENST00000697864.1:n.1791G>A
ENST00000697865.1:c.590G>A	ENSP00000513463.1:p.Cys197Tyr
ENST00000697866.1:c.329G>A	ENSP00000513464.1:p.Cys110Tyr
ENST00000697867.1:c.625G>A
ENST00000697868.1:c.*411G>A	ENSP00000513466.1:n.*411G>A
ENST00000697897.1:c.647G>A	ENSP00000513469.1:p.Cys216Tyr
ENST00000246868.7:c.647G>A MANE Select	ENSP00000246868.2:p.Cys216Tyr
ENST00000246868.6:c.647G>A	ENSP00000246868.2:p.Cys216Tyr
ENST00000414306.5:c.*378G>A	ENSP00000394586.1:n.*378G>A
ENST00000617799.1:c.647G>A	ENSP00000483040.1:p.Cys216Tyr
NM_016038.2:c.647G>A , LRG_104t1:c.647G>A	NP_057122.2:p.Cys216Tyr
NM_016038.3:c.647G>A	NP_057122.2:p.Cys216Tyr
NM_016038.4:c.647G>A MANE Select	NP_057122.2:p.Cys216Tyr