Canonical Allele Identifier: CA159927549
Community Standard Title: NM_016038.4(SBDS):c.108C>T (p.Val36=)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66995310G>A , CM000669.2:g.66995310G>A GRCh38
NC_000007.13:g.66460297G>A , CM000669.1:g.66460297G>A GRCh37
NC_000007.12:g.66097732G>A NCBI36
NG_007277.1:g.5292C>T , LRG_104:g.5292C>T
NG_033069.1:g.3506G>A

Transcript Alleles

HGVS Amino-acid Change
NM_016038.4:c.108C>T (SBDS) MANE Select NP_057122.2:p.Val36=
ENST00000246868.7:c.108C>T (SBDS) MANE Select ENSP00000246868.2:p.Val36=
NM_016038.2:c.108C>T , LRG_104t1:c.108C>T (SBDS) NP_057122.2:p.Val36=
NM_016038.3:c.108C>T (SBDS) NP_057122.2:p.Val36=
ENST00000246868.6:c.108C>T (SBDS) ENSP00000246868.2:p.Val36=
ENST00000414306.5:c.108C>T (SBDS) ENSP00000394586.1:p.Val36=
ENST00000414306.6:c.108C>T (SBDS) ENSP00000394586.1:p.Val36=
ENST00000490953.5:n.257C>T (SBDS)
ENST00000491969.5:n.138G>A (TYW1)
ENST00000617799.1:c.108C>T (SBDS) ENSP00000483040.1:p.Val36=
ENST00000697861.1:c.108C>T (SBDS) ENSP00000513460.1:p.Val36=
ENST00000697862.1:c.108C>T (SBDS) ENSP00000513461.1:p.Val36=
ENST00000697863.1:c.51C>T (SBDS) ENSP00000513462.1:p.Val17=
ENST00000697864.1:n.304C>T (SBDS)
ENST00000697865.1:c.51C>T (SBDS) ENSP00000513463.1:p.Val17=
ENST00000697866.1:c.-403C>T (SBDS) ENSP00000513464.1:n.-403C>T
ENST00000697868.1:c.108C>T (SBDS) ENSP00000513466.1:p.Val36=
ENST00000697869.1:c.108C>T (SBDS) ENSP00000513467.1:p.Val36=
ENST00000697897.1:c.108C>T (SBDS) ENSP00000513469.1:p.Val36=