Canonical Allele Identifier: CA2683133087

Gene: SBDS

Linked Data

• gnomAD v4: 7-66988278-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988278T>G , CM000669.2:g.66988278T>G	GRCh38
NC_000007.13:g.66453265T>G , CM000669.1:g.66453265T>G	GRCh37
NC_000007.12:g.66090700T>G	NCBI36
NG_007277.1:g.12324A>C , LRG_104:g.12324A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*577A>C	ENSP00000394586.1:n.*577A>C
ENST00000697860.1:n.813A>C
ENST00000697861.1:c.*93A>C	ENSP00000513460.1:n.*93A>C
ENST00000697862.1:c.*287A>C	ENSP00000513461.1:n.*287A>C
ENST00000697863.1:c.*93A>C	ENSP00000513462.1:n.*93A>C
ENST00000697864.1:n.1990A>C
ENST00000697865.1:c.*93A>C	ENSP00000513463.1:n.*93A>C
ENST00000697866.1:c.*93A>C	ENSP00000513464.1:n.*93A>C
ENST00000697867.1:c.824A>C
ENST00000697868.1:c.*610A>C	ENSP00000513466.1:n.*610A>C
ENST00000697897.1:c.*93A>C	ENSP00000513469.1:n.*93A>C
ENST00000246868.7:c.*93A>C MANE Select	ENSP00000246868.2:n.*93A>C
ENST00000246868.6:c.*93A>C	ENSP00000246868.2:n.*93A>C
ENST00000414306.5:c.*577A>C	ENSP00000394586.1:n.*577A>C
NM_016038.2:c.*93A>C , LRG_104t1:c.*93A>C	NP_057122.2:n.*93A>C
NM_016038.3:c.*93A>C	NP_057122.2:n.*93A>C
NM_016038.4:c.*93A>C MANE Select	NP_057122.2:n.*93A>C