Canonical Allele Identifier: CA249202

Gene: SBDS

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988489A>G , CM000669.2:g.66988489A>G	GRCh38
NC_000007.13:g.66453476A>G , CM000669.1:g.66453476A>G	GRCh37
NC_000007.12:g.66090911A>G	NCBI36
NG_007277.1:g.12113T>C , LRG_104:g.12113T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*366T>C	ENSP00000394586.1:n.*366T>C
ENST00000697860.1:n.602T>C
ENST00000697861.1:c.434T>C	ENSP00000513460.1:p.Ile145Thr
ENST00000697862.1:c.*76T>C	ENSP00000513461.1:n.*76T>C
ENST00000697863.1:c.578T>C	ENSP00000513462.1:p.Ile193Thr
ENST00000697864.1:n.1779T>C
ENST00000697865.1:c.578T>C	ENSP00000513463.1:p.Ile193Thr
ENST00000697866.1:c.317T>C	ENSP00000513464.1:p.Ile106Thr
ENST00000697867.1:c.613T>C
ENST00000697868.1:c.*399T>C	ENSP00000513466.1:n.*399T>C
ENST00000697897.1:c.635T>C	ENSP00000513469.1:p.Ile212Thr
ENST00000246868.7:c.635T>C MANE Select	ENSP00000246868.2:p.Ile212Thr
ENST00000246868.6:c.635T>C	ENSP00000246868.2:p.Ile212Thr
ENST00000414306.5:c.*366T>C	ENSP00000394586.1:n.*366T>C
ENST00000617799.1:c.635T>C	ENSP00000483040.1:p.Ile212Thr
NM_016038.2:c.635T>C , LRG_104t1:c.635T>C	NP_057122.2:p.Ile212Thr
NM_016038.3:c.635T>C	NP_057122.2:p.Ile212Thr
NM_016038.4:c.635T>C MANE Select	NP_057122.2:p.Ile212Thr