Canonical Allele Identifier: CA367649797

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66458280T>G (hg19) ; chr7:g.66993293T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993293T>G , CM000669.2:g.66993293T>G	GRCh38
NC_000007.13:g.66458280T>G , CM000669.1:g.66458280T>G	GRCh37
NC_000007.12:g.66095715T>G	NCBI36
NG_007277.1:g.7309A>C , LRG_104:g.7309A>C
NG_033069.1:g.1489T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*114A>C	ENSP00000394586.1:n.*114A>C
ENST00000697860.1:n.350A>C
ENST00000697861.1:c.258+919A>C	ENSP00000513460.1:n.258+919A>C
ENST00000697862.1:c.383A>C	ENSP00000513461.1:p.Tyr128Ser
ENST00000697863.1:c.326A>C	ENSP00000513462.1:p.Tyr109Ser
ENST00000697864.1:n.1527A>C
ENST00000697865.1:c.326A>C	ENSP00000513463.1:p.Tyr109Ser
ENST00000697866.1:c.65A>C	ENSP00000513464.1:p.Tyr22Ser
ENST00000697867.1:c.223A>C
ENST00000697868.1:c.*147A>C	ENSP00000513466.1:n.*147A>C
ENST00000697869.1:c.*118A>C	ENSP00000513467.1:n.*118A>C
ENST00000697897.1:c.383A>C	ENSP00000513469.1:p.Tyr128Ser
ENST00000246868.7:c.383A>C MANE Select	ENSP00000246868.2:p.Tyr128Ser
ENST00000246868.6:c.383A>C	ENSP00000246868.2:p.Tyr128Ser
ENST00000414306.5:c.*114A>C	ENSP00000394586.1:n.*114A>C
ENST00000463579.1:n.272A>C
ENST00000490953.5:n.524A>C
ENST00000617799.1:c.383A>C	ENSP00000483040.1:p.Tyr128Ser
NM_016038.2:c.383A>C , LRG_104t1:c.383A>C	NP_057122.2:p.Tyr128Ser
NM_016038.3:c.383A>C	NP_057122.2:p.Tyr128Ser
NM_016038.4:c.383A>C MANE Select	NP_057122.2:p.Tyr128Ser