Canonical Allele Identifier: CA575259467

Gene: SBDS

Linked Data

• dbSNP Id: rs777967858
• gnomAD v2: 7-66458182-G-C
• gnomAD v4: 7-66993195-G-C
• MyVariant Identifiers: chr7:g.66458182G>C (hg19) ; chr7:g.66993195G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993195G>C , CM000669.2:g.66993195G>C	GRCh38
NC_000007.13:g.66458182G>C , CM000669.1:g.66458182G>C	GRCh37
NC_000007.12:g.66095617G>C	NCBI36
NG_007277.1:g.7407C>G , LRG_104:g.7407C>G
NG_033069.1:g.1391G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*190+22C>G	ENSP00000394586.1:n.*190+22C>G
ENST00000697860.1:n.426+22C>G
ENST00000697861.1:c.258+1017C>G	ENSP00000513460.1:n.258+1017C>G
ENST00000697862.1:c.459+22C>G	ENSP00000513461.1:n.459+22C>G
ENST00000697863.1:c.402+22C>G	ENSP00000513462.1:n.402+22C>G
ENST00000697864.1:n.1603+22C>G
ENST00000697865.1:c.402+22C>G	ENSP00000513463.1:n.402+22C>G
ENST00000697866.1:c.141+22C>G	ENSP00000513464.1:n.141+22C>G
ENST00000697867.1:c.299+22C>G
ENST00000697868.1:c.*223+22C>G	ENSP00000513466.1:n.*223+22C>G
ENST00000697869.1:c.*194+22C>G	ENSP00000513467.1:n.*194+22C>G
ENST00000697897.1:c.459+22C>G	ENSP00000513469.1:n.459+22C>G
ENST00000246868.7:c.459+22C>G MANE Select	ENSP00000246868.2:n.459+22C>G
ENST00000246868.6:c.459+22C>G	ENSP00000246868.2:n.459+22C>G
ENST00000414306.5:c.*190+22C>G	ENSP00000394586.1:n.*190+22C>G
ENST00000463579.1:n.348+22C>G
ENST00000490953.5:n.600+22C>G
ENST00000617799.1:c.459+22C>G	ENSP00000483040.1:n.459+22C>G
NM_016038.2:c.459+22C>G , LRG_104t1:c.459+22C>G	NP_057122.2:n.459+22C>G
NM_016038.3:c.459+22C>G	NP_057122.2:n.459+22C>G
NM_016038.4:c.459+22C>G MANE Select	NP_057122.2:n.459+22C>G