Canonical Allele Identifier: CA4279235

Gene: SBDS

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66994344T>C , CM000669.2:g.66994344T>C	GRCh38
NC_000007.13:g.66459331T>C , CM000669.1:g.66459331T>C	GRCh37
NC_000007.12:g.66096766T>C	NCBI36
NG_007277.1:g.6258A>G , LRG_104:g.6258A>G
NG_033069.1:g.2540T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.129-3A>G	ENSP00000394586.1:n.129-3A>G
ENST00000697860.1:n.96-3A>G
ENST00000697861.1:c.129-3A>G	ENSP00000513460.1:n.129-3A>G
ENST00000697862.1:c.129-3A>G	ENSP00000513461.1:n.129-3A>G
ENST00000697863.1:c.72-3A>G	ENSP00000513462.1:n.72-3A>G
ENST00000697864.1:n.1270A>G
ENST00000697865.1:c.72-3A>G	ENSP00000513463.1:n.72-3A>G
ENST00000697866.1:c.-190-3A>G	ENSP00000513464.1:n.-190-3A>G
ENST00000697868.1:c.129-62A>G	ENSP00000513466.1:n.129-62A>G
ENST00000697869.1:c.129-67A>G	ENSP00000513467.1:n.129-67A>G
ENST00000697897.1:c.129-3A>G	ENSP00000513469.1:n.129-3A>G
ENST00000246868.7:c.129-3A>G MANE Select	ENSP00000246868.2:n.129-3A>G
ENST00000246868.6:c.129-3A>G	ENSP00000246868.2:n.129-3A>G
ENST00000414306.5:c.129-3A>G	ENSP00000394586.1:n.129-3A>G
ENST00000463579.1:n.23A>G
ENST00000490953.5:n.278-3A>G
ENST00000617799.1:c.128-2A>G	ENSP00000483040.1:n.128-2A>G
NM_016038.2:c.129-3A>G , LRG_104t1:c.129-3A>G	NP_057122.2:n.129-3A>G
NM_016038.3:c.129-3A>G	NP_057122.2:n.129-3A>G
NM_016038.4:c.129-3A>G MANE Select	NP_057122.2:n.129-3A>G