Canonical Allele Identifier: CA4279116

Gene: SBDS

Linked Data

• dbSNP Id: rs758835956
• ExAC: 7:66453461 A / G
• gnomAD v2: 7-66453461-A-G
• gnomAD v4: 7-66988474-A-G
• MyVariant Identifiers: chr7:g.66453461A>G (hg19) ; chr7:g.66988474A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988474A>G , CM000669.2:g.66988474A>G	GRCh38
NC_000007.13:g.66453461A>G , CM000669.1:g.66453461A>G	GRCh37
NC_000007.12:g.66090896A>G	NCBI36
NG_007277.1:g.12128T>C , LRG_104:g.12128T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*381T>C	ENSP00000394586.1:n.*381T>C
ENST00000697860.1:n.617T>C
ENST00000697861.1:c.449T>C	ENSP00000513460.1:p.Phe150Ser
ENST00000697862.1:c.*91T>C	ENSP00000513461.1:n.*91T>C
ENST00000697863.1:c.593T>C	ENSP00000513462.1:p.Phe198Ser
ENST00000697864.1:n.1794T>C
ENST00000697865.1:c.593T>C	ENSP00000513463.1:p.Phe198Ser
ENST00000697866.1:c.332T>C	ENSP00000513464.1:p.Phe111Ser
ENST00000697867.1:c.628T>C
ENST00000697868.1:c.*414T>C	ENSP00000513466.1:n.*414T>C
ENST00000697897.1:c.650T>C	ENSP00000513469.1:p.Phe217Ser
ENST00000246868.7:c.650T>C MANE Select	ENSP00000246868.2:p.Phe217Ser
ENST00000246868.6:c.650T>C	ENSP00000246868.2:p.Phe217Ser
ENST00000414306.5:c.*381T>C	ENSP00000394586.1:n.*381T>C
ENST00000617799.1:c.650T>C	ENSP00000483040.1:p.Phe217Ser
NM_016038.2:c.650T>C , LRG_104t1:c.650T>C	NP_057122.2:p.Phe217Ser
NM_016038.3:c.650T>C	NP_057122.2:p.Phe217Ser
NM_016038.4:c.650T>C MANE Select	NP_057122.2:p.Phe217Ser