Canonical Allele Identifier: CA367650648

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66458377A>C (hg19) ; chr7:g.66993390A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993390A>C , CM000669.2:g.66993390A>C	GRCh38
NC_000007.13:g.66458377A>C , CM000669.1:g.66458377A>C	GRCh37
NC_000007.12:g.66095812A>C	NCBI36
NG_007277.1:g.7212T>G , LRG_104:g.7212T>G
NG_033069.1:g.1586A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*17T>G	ENSP00000394586.1:n.*17T>G
ENST00000697860.1:n.253T>G
ENST00000697861.1:c.258+822T>G	ENSP00000513460.1:n.258+822T>G
ENST00000697862.1:c.286T>G	ENSP00000513461.1:p.Ser96Ala
ENST00000697863.1:c.229T>G	ENSP00000513462.1:p.Ser77Ala
ENST00000697864.1:n.1430T>G
ENST00000697865.1:c.229T>G	ENSP00000513463.1:p.Ser77Ala
ENST00000697866.1:c.-33T>G	ENSP00000513464.1:n.-33T>G
ENST00000697867.1:c.126T>G
ENST00000697868.1:c.*50T>G	ENSP00000513466.1:n.*50T>G
ENST00000697869.1:c.*21T>G	ENSP00000513467.1:n.*21T>G
ENST00000697897.1:c.286T>G	ENSP00000513469.1:p.Ser96Ala
ENST00000246868.7:c.286T>G MANE Select	ENSP00000246868.2:p.Ser96Ala
ENST00000246868.6:c.286T>G	ENSP00000246868.2:p.Ser96Ala
ENST00000414306.5:c.*17T>G	ENSP00000394586.1:n.*17T>G
ENST00000463579.1:n.175T>G
ENST00000490953.5:n.427T>G
ENST00000617799.1:c.286T>G	ENSP00000483040.1:p.Ser96Ala
NM_016038.2:c.286T>G , LRG_104t1:c.286T>G	NP_057122.2:p.Ser96Ala
NM_016038.3:c.286T>G	NP_057122.2:p.Ser96Ala
NM_016038.4:c.286T>G MANE Select	NP_057122.2:p.Ser96Ala