Canonical Allele Identifier: CA367650757

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66458388T>G (hg19) ; chr7:g.66993401T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993401T>G , CM000669.2:g.66993401T>G	GRCh38
NC_000007.13:g.66458388T>G , CM000669.1:g.66458388T>G	GRCh37
NC_000007.12:g.66095823T>G	NCBI36
NG_007277.1:g.7201A>C , LRG_104:g.7201A>C
NG_033069.1:g.1597T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*6A>C	ENSP00000394586.1:n.*6A>C
ENST00000697860.1:n.242A>C
ENST00000697861.1:c.258+811A>C	ENSP00000513460.1:n.258+811A>C
ENST00000697862.1:c.275A>C	ENSP00000513461.1:p.Glu92Ala
ENST00000697863.1:c.218A>C	ENSP00000513462.1:p.Glu73Ala
ENST00000697864.1:n.1419A>C
ENST00000697865.1:c.218A>C	ENSP00000513463.1:p.Glu73Ala
ENST00000697866.1:c.-44A>C	ENSP00000513464.1:n.-44A>C
ENST00000697867.1:c.115A>C
ENST00000697868.1:c.*39A>C	ENSP00000513466.1:n.*39A>C
ENST00000697869.1:c.*10A>C	ENSP00000513467.1:n.*10A>C
ENST00000697897.1:c.275A>C	ENSP00000513469.1:p.Glu92Ala
ENST00000246868.7:c.275A>C MANE Select	ENSP00000246868.2:p.Glu92Ala
ENST00000246868.6:c.275A>C	ENSP00000246868.2:p.Glu92Ala
ENST00000414306.5:c.*6A>C	ENSP00000394586.1:n.*6A>C
ENST00000463579.1:n.164A>C
ENST00000490953.5:n.416A>C
ENST00000617799.1:c.275A>C	ENSP00000483040.1:p.Glu92Ala
NM_016038.2:c.275A>C , LRG_104t1:c.275A>C	NP_057122.2:p.Glu92Ala
NM_016038.3:c.275A>C	NP_057122.2:p.Glu92Ala
NM_016038.4:c.275A>C MANE Select	NP_057122.2:p.Glu92Ala