Canonical Allele Identifier: CA367644575

Gene: SBDS

Linked Data

• gnomAD v4: 7-66988483-G-C
• MyVariant Identifiers: chr7:g.66453470G>C (hg19) ; chr7:g.66988483G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988483G>C , CM000669.2:g.66988483G>C	GRCh38
NC_000007.13:g.66453470G>C , CM000669.1:g.66453470G>C	GRCh37
NC_000007.12:g.66090905G>C	NCBI36
NG_007277.1:g.12119C>G , LRG_104:g.12119C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*372C>G	ENSP00000394586.1:n.*372C>G
ENST00000697860.1:n.608C>G
ENST00000697861.1:c.440C>G	ENSP00000513460.1:p.Pro147Arg
ENST00000697862.1:c.*82C>G	ENSP00000513461.1:n.*82C>G
ENST00000697863.1:c.584C>G	ENSP00000513462.1:p.Pro195Arg
ENST00000697864.1:n.1785C>G
ENST00000697865.1:c.584C>G	ENSP00000513463.1:p.Pro195Arg
ENST00000697866.1:c.323C>G	ENSP00000513464.1:p.Pro108Arg
ENST00000697867.1:c.619C>G
ENST00000697868.1:c.*405C>G	ENSP00000513466.1:n.*405C>G
ENST00000697897.1:c.641C>G	ENSP00000513469.1:p.Pro214Arg
ENST00000246868.7:c.641C>G MANE Select	ENSP00000246868.2:p.Pro214Arg
ENST00000246868.6:c.641C>G	ENSP00000246868.2:p.Pro214Arg
ENST00000414306.5:c.*372C>G	ENSP00000394586.1:n.*372C>G
ENST00000617799.1:c.641C>G	ENSP00000483040.1:p.Pro214Arg
NM_016038.2:c.641C>G , LRG_104t1:c.641C>G	NP_057122.2:p.Pro214Arg
NM_016038.3:c.641C>G	NP_057122.2:p.Pro214Arg
NM_016038.4:c.641C>G MANE Select	NP_057122.2:p.Pro214Arg