Canonical Allele Identifier: CA367643929

Gene: SBDS

Linked Data

• gnomAD v4: 7-66988373-A-G
• MyVariant Identifiers: chr7:g.66453360A>G (hg19) ; chr7:g.66988373A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988373A>G , CM000669.2:g.66988373A>G	GRCh38
NC_000007.13:g.66453360A>G , CM000669.1:g.66453360A>G	GRCh37
NC_000007.12:g.66090795A>G	NCBI36
NG_007277.1:g.12229T>C , LRG_104:g.12229T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*482T>C	ENSP00000394586.1:n.*482T>C
ENST00000697860.1:n.718T>C
ENST00000697861.1:c.550T>C	ENSP00000513460.1:p.Ter184Arg
ENST00000697862.1:c.*192T>C	ENSP00000513461.1:n.*192T>C
ENST00000697863.1:c.694T>C	ENSP00000513462.1:p.Ter232Arg
ENST00000697864.1:n.1895T>C
ENST00000697865.1:c.694T>C	ENSP00000513463.1:p.Ter232Arg
ENST00000697866.1:c.433T>C	ENSP00000513464.1:p.Ter145Arg
ENST00000697867.1:c.729T>C
ENST00000697868.1:c.*515T>C	ENSP00000513466.1:n.*515T>C
ENST00000697897.1:c.751T>C	ENSP00000513469.1:p.Ter251Arg
ENST00000246868.7:c.751T>C MANE Select	ENSP00000246868.2:p.Ter251Arg
ENST00000246868.6:c.751T>C	ENSP00000246868.2:p.Ter251Arg
ENST00000414306.5:c.*482T>C	ENSP00000394586.1:n.*482T>C
ENST00000617799.1:c.751T>C	ENSP00000483040.1:p.Ter251Arg
NM_016038.2:c.751T>C , LRG_104t1:c.751T>C	NP_057122.2:p.Ter251Arg
NM_016038.3:c.751T>C	NP_057122.2:p.Ter251Arg
NM_016038.4:c.751T>C MANE Select	NP_057122.2:p.Ter251Arg