Canonical Allele Identifier: CA2683133119

Gene: SBDS

Linked Data

• gnomAD v4: 7-66988331-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988331A>G , CM000669.2:g.66988331A>G	GRCh38
NC_000007.13:g.66453318A>G , CM000669.1:g.66453318A>G	GRCh37
NC_000007.12:g.66090753A>G	NCBI36
NG_007277.1:g.12271T>C , LRG_104:g.12271T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*524T>C	ENSP00000394586.1:n.*524T>C
ENST00000697860.1:n.760T>C
ENST00000697861.1:c.*40T>C	ENSP00000513460.1:n.*40T>C
ENST00000697862.1:c.*234T>C	ENSP00000513461.1:n.*234T>C
ENST00000697863.1:c.*40T>C	ENSP00000513462.1:n.*40T>C
ENST00000697864.1:n.1937T>C
ENST00000697865.1:c.*40T>C	ENSP00000513463.1:n.*40T>C
ENST00000697866.1:c.*40T>C	ENSP00000513464.1:n.*40T>C
ENST00000697867.1:c.771T>C
ENST00000697868.1:c.*557T>C	ENSP00000513466.1:n.*557T>C
ENST00000697897.1:c.*40T>C	ENSP00000513469.1:n.*40T>C
ENST00000246868.7:c.*40T>C MANE Select	ENSP00000246868.2:n.*40T>C
ENST00000246868.6:c.*40T>C	ENSP00000246868.2:n.*40T>C
ENST00000414306.5:c.*524T>C	ENSP00000394586.1:n.*524T>C
NM_016038.2:c.*40T>C , LRG_104t1:c.*40T>C	NP_057122.2:n.*40T>C
NM_016038.3:c.*40T>C	NP_057122.2:n.*40T>C
NM_016038.4:c.*40T>C MANE Select	NP_057122.2:n.*40T>C