Canonical Allele Identifier: CA367650701

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66458381T>G (hg19) ; chr7:g.66993394T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993394T>G , CM000669.2:g.66993394T>G	GRCh38
NC_000007.13:g.66458381T>G , CM000669.1:g.66458381T>G	GRCh37
NC_000007.12:g.66095816T>G	NCBI36
NG_007277.1:g.7208A>C , LRG_104:g.7208A>C
NG_033069.1:g.1590T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*13A>C	ENSP00000394586.1:n.*13A>C
ENST00000697860.1:n.249A>C
ENST00000697861.1:c.258+818A>C	ENSP00000513460.1:n.258+818A>C
ENST00000697862.1:c.282A>C	ENSP00000513461.1:p.Gln94His
ENST00000697863.1:c.225A>C	ENSP00000513462.1:p.Gln75His
ENST00000697864.1:n.1426A>C
ENST00000697865.1:c.225A>C	ENSP00000513463.1:p.Gln75His
ENST00000697866.1:c.-37A>C	ENSP00000513464.1:n.-37A>C
ENST00000697867.1:c.122A>C
ENST00000697868.1:c.*46A>C	ENSP00000513466.1:n.*46A>C
ENST00000697869.1:c.*17A>C	ENSP00000513467.1:n.*17A>C
ENST00000697897.1:c.282A>C	ENSP00000513469.1:p.Gln94His
ENST00000246868.7:c.282A>C MANE Select	ENSP00000246868.2:p.Gln94His
ENST00000246868.6:c.282A>C	ENSP00000246868.2:p.Gln94His
ENST00000414306.5:c.*13A>C	ENSP00000394586.1:n.*13A>C
ENST00000463579.1:n.171A>C
ENST00000490953.5:n.423A>C
ENST00000617799.1:c.282A>C	ENSP00000483040.1:p.Gln94His
NM_016038.2:c.282A>C , LRG_104t1:c.282A>C	NP_057122.2:p.Gln94His
NM_016038.3:c.282A>C	NP_057122.2:p.Gln94His
NM_016038.4:c.282A>C MANE Select	NP_057122.2:p.Gln94His