Canonical Allele Identifier: CA367649975

Gene: SBDS

Linked Data

• gnomAD v4: 7-66993320-C-T
• MyVariant Identifiers: chr7:g.66458307C>T (hg19) ; chr7:g.66993320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993320C>T , CM000669.2:g.66993320C>T	GRCh38
NC_000007.13:g.66458307C>T , CM000669.1:g.66458307C>T	GRCh37
NC_000007.12:g.66095742C>T	NCBI36
NG_007277.1:g.7282G>A , LRG_104:g.7282G>A
NG_033069.1:g.1516C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*87G>A	ENSP00000394586.1:n.*87G>A
ENST00000697860.1:n.323G>A
ENST00000697861.1:c.258+892G>A	ENSP00000513460.1:n.258+892G>A
ENST00000697862.1:c.356G>A	ENSP00000513461.1:p.Cys119Tyr
ENST00000697863.1:c.299G>A	ENSP00000513462.1:p.Cys100Tyr
ENST00000697864.1:n.1500G>A
ENST00000697865.1:c.299G>A	ENSP00000513463.1:p.Cys100Tyr
ENST00000697866.1:c.38G>A	ENSP00000513464.1:p.Cys13Tyr
ENST00000697867.1:c.196G>A
ENST00000697868.1:c.*120G>A	ENSP00000513466.1:n.*120G>A
ENST00000697869.1:c.*91G>A	ENSP00000513467.1:n.*91G>A
ENST00000697897.1:c.356G>A	ENSP00000513469.1:p.Cys119Tyr
ENST00000246868.7:c.356G>A MANE Select	ENSP00000246868.2:p.Cys119Tyr
ENST00000246868.6:c.356G>A	ENSP00000246868.2:p.Cys119Tyr
ENST00000414306.5:c.*87G>A	ENSP00000394586.1:n.*87G>A
ENST00000463579.1:n.245G>A
ENST00000490953.5:n.497G>A
ENST00000617799.1:c.356G>A	ENSP00000483040.1:p.Cys119Tyr
NM_016038.2:c.356G>A , LRG_104t1:c.356G>A	NP_057122.2:p.Cys119Tyr
NM_016038.3:c.356G>A	NP_057122.2:p.Cys119Tyr
NM_016038.4:c.356G>A MANE Select	NP_057122.2:p.Cys119Tyr