Canonical Allele Identifier: CA4279096

Gene: SBDS

Linked Data

• dbSNP Id: rs749391221
• ExAC: 7:66453366 A / T
• gnomAD v2: 7-66453366-A-T
• gnomAD v3: 7-66988379-A-T
• gnomAD v4: 7-66988379-A-T
• MyVariant Identifiers: chr7:g.66453366A>T (hg19) ; chr7:g.66988379A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988379A>T , CM000669.2:g.66988379A>T	GRCh38
NC_000007.13:g.66453366A>T , CM000669.1:g.66453366A>T	GRCh37
NC_000007.12:g.66090801A>T	NCBI36
NG_007277.1:g.12223T>A , LRG_104:g.12223T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*476T>A	ENSP00000394586.1:n.*476T>A
ENST00000697860.1:n.712T>A
ENST00000697861.1:c.544T>A	ENSP00000513460.1:p.Phe182Ile
ENST00000697862.1:c.*186T>A	ENSP00000513461.1:n.*186T>A
ENST00000697863.1:c.688T>A	ENSP00000513462.1:p.Phe230Ile
ENST00000697864.1:n.1889T>A
ENST00000697865.1:c.688T>A	ENSP00000513463.1:p.Phe230Ile
ENST00000697866.1:c.427T>A	ENSP00000513464.1:p.Phe143Ile
ENST00000697867.1:c.723T>A
ENST00000697868.1:c.*509T>A	ENSP00000513466.1:n.*509T>A
ENST00000697897.1:c.745T>A	ENSP00000513469.1:p.Phe249Ile
ENST00000246868.7:c.745T>A MANE Select	ENSP00000246868.2:p.Phe249Ile
ENST00000246868.6:c.745T>A	ENSP00000246868.2:p.Phe249Ile
ENST00000414306.5:c.*476T>A	ENSP00000394586.1:n.*476T>A
ENST00000617799.1:c.745T>A	ENSP00000483040.1:p.Phe249Ile
NM_016038.2:c.745T>A , LRG_104t1:c.745T>A	NP_057122.2:p.Phe249Ile
NM_016038.3:c.745T>A	NP_057122.2:p.Phe249Ile
NM_016038.4:c.745T>A MANE Select	NP_057122.2:p.Phe249Ile