Canonical Allele Identifier: CA2683133085

Gene: SBDS

Linked Data

• gnomAD v4: 7-66988277-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988277G>T , CM000669.2:g.66988277G>T	GRCh38
NC_000007.13:g.66453264G>T , CM000669.1:g.66453264G>T	GRCh37
NC_000007.12:g.66090699G>T	NCBI36
NG_007277.1:g.12325C>A , LRG_104:g.12325C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*578C>A	ENSP00000394586.1:n.*578C>A
ENST00000697860.1:n.814C>A
ENST00000697861.1:c.*94C>A	ENSP00000513460.1:n.*94C>A
ENST00000697862.1:c.*288C>A	ENSP00000513461.1:n.*288C>A
ENST00000697863.1:c.*94C>A	ENSP00000513462.1:n.*94C>A
ENST00000697864.1:n.1991C>A
ENST00000697865.1:c.*94C>A	ENSP00000513463.1:n.*94C>A
ENST00000697866.1:c.*94C>A	ENSP00000513464.1:n.*94C>A
ENST00000697867.1:c.825C>A
ENST00000697868.1:c.*611C>A	ENSP00000513466.1:n.*611C>A
ENST00000697897.1:c.*94C>A	ENSP00000513469.1:n.*94C>A
ENST00000246868.7:c.*94C>A MANE Select	ENSP00000246868.2:n.*94C>A
ENST00000246868.6:c.*94C>A	ENSP00000246868.2:n.*94C>A
ENST00000414306.5:c.*578C>A	ENSP00000394586.1:n.*578C>A
NM_016038.2:c.*94C>A , LRG_104t1:c.*94C>A	NP_057122.2:n.*94C>A
NM_016038.3:c.*94C>A	NP_057122.2:n.*94C>A
NM_016038.4:c.*94C>A MANE Select	NP_057122.2:n.*94C>A