Canonical Allele Identifier: CA1714369730

Gene: SBDS

Linked Data

• dbSNP Id: rs1792915017
• gnomAD v4: 7-66988539-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988539G>A , CM000669.2:g.66988539G>A	GRCh38
NC_000007.13:g.66453526G>A , CM000669.1:g.66453526G>A	GRCh37
NC_000007.12:g.66090961G>A	NCBI36
NG_007277.1:g.12063C>T , LRG_104:g.12063C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*356-40C>T	ENSP00000394586.1:n.*356-40C>T
ENST00000697860.1:n.592-40C>T
ENST00000697861.1:c.424-40C>T	ENSP00000513460.1:n.424-40C>T
ENST00000697862.1:c.*66-40C>T	ENSP00000513461.1:n.*66-40C>T
ENST00000697863.1:c.568-40C>T	ENSP00000513462.1:n.568-40C>T
ENST00000697864.1:n.1769-40C>T
ENST00000697865.1:c.568-40C>T	ENSP00000513463.1:n.568-40C>T
ENST00000697866.1:c.307-40C>T	ENSP00000513464.1:n.307-40C>T
ENST00000697867.1:c.603-40C>T
ENST00000697868.1:c.*389-40C>T	ENSP00000513466.1:n.*389-40C>T
ENST00000697897.1:c.625-40C>T	ENSP00000513469.1:n.625-40C>T
ENST00000246868.7:c.625-40C>T MANE Select	ENSP00000246868.2:n.625-40C>T
ENST00000246868.6:c.625-40C>T	ENSP00000246868.2:n.625-40C>T
ENST00000414306.5:c.*356-40C>T	ENSP00000394586.1:n.*356-40C>T
ENST00000617799.1:c.625-40C>T	ENSP00000483040.1:n.625-40C>T
NM_016038.2:c.625-40C>T , LRG_104t1:c.625-40C>T	NP_057122.2:n.625-40C>T
NM_016038.3:c.625-40C>T	NP_057122.2:n.625-40C>T
NM_016038.4:c.625-40C>T MANE Select	NP_057122.2:n.625-40C>T