Canonical Allele Identifier: CA574868564

Gene: SBDS

Linked Data

• dbSNP Id: rs1246115367
• gnomAD v2: 7-66453334-T-C
• gnomAD v4: 7-66988347-T-C
• MyVariant Identifiers: chr7:g.66453334T>C (hg19) ; chr7:g.66988347T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988347T>C , CM000669.2:g.66988347T>C	GRCh38
NC_000007.13:g.66453334T>C , CM000669.1:g.66453334T>C	GRCh37
NC_000007.12:g.66090769T>C	NCBI36
NG_007277.1:g.12255A>G , LRG_104:g.12255A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*508A>G	ENSP00000394586.1:n.*508A>G
ENST00000697860.1:n.744A>G
ENST00000697861.1:c.*24A>G	ENSP00000513460.1:n.*24A>G
ENST00000697862.1:c.*218A>G	ENSP00000513461.1:n.*218A>G
ENST00000697863.1:c.*24A>G	ENSP00000513462.1:n.*24A>G
ENST00000697864.1:n.1921A>G
ENST00000697865.1:c.*24A>G	ENSP00000513463.1:n.*24A>G
ENST00000697866.1:c.*24A>G	ENSP00000513464.1:n.*24A>G
ENST00000697867.1:c.755A>G
ENST00000697868.1:c.*541A>G	ENSP00000513466.1:n.*541A>G
ENST00000697897.1:c.*24A>G	ENSP00000513469.1:n.*24A>G
ENST00000246868.7:c.*24A>G MANE Select	ENSP00000246868.2:n.*24A>G
ENST00000246868.6:c.*24A>G	ENSP00000246868.2:n.*24A>G
ENST00000414306.5:c.*508A>G	ENSP00000394586.1:n.*508A>G
ENST00000617799.1:c.*24A>G	ENSP00000483040.1:n.*24A>G
NM_016038.2:c.*24A>G , LRG_104t1:c.*24A>G	NP_057122.2:n.*24A>G
NM_016038.3:c.*24A>G	NP_057122.2:n.*24A>G
NM_016038.4:c.*24A>G MANE Select	NP_057122.2:n.*24A>G