Canonical Allele Identifier: CA2578901531

Gene: SBDS TYW1

Linked Data

• gnomAD v4: 7-66995239-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66995239G>A , CM000669.2:g.66995239G>A	GRCh38
NC_000007.13:g.66460226G>A , CM000669.1:g.66460226G>A	GRCh37
NC_000007.12:g.66097661G>A	NCBI36
NG_007277.1:g.5363C>T , LRG_104:g.5363C>T
NG_033069.1:g.3435G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.128+51C>T (SBDS)	ENSP00000394586.1:n.128+51C>T
ENST00000697861.1:c.128+51C>T (SBDS)	ENSP00000513460.1:n.128+51C>T
ENST00000697862.1:c.128+51C>T (SBDS)	ENSP00000513461.1:n.128+51C>T
ENST00000697863.1:c.71+51C>T (SBDS)	ENSP00000513462.1:n.71+51C>T
ENST00000697864.1:n.375C>T (SBDS)
ENST00000697865.1:c.71+51C>T (SBDS)	ENSP00000513463.1:n.71+51C>T
ENST00000697866.1:c.-332C>T (SBDS)	ENSP00000513464.1:n.-332C>T
ENST00000697868.1:c.128+51C>T (SBDS)	ENSP00000513466.1:n.128+51C>T
ENST00000697869.1:c.128+51C>T (SBDS)	ENSP00000513467.1:n.128+51C>T
ENST00000697897.1:c.128+51C>T (SBDS)	ENSP00000513469.1:n.128+51C>T
ENST00000246868.7:c.128+51C>T (SBDS) MANE Select	ENSP00000246868.2:n.128+51C>T
ENST00000246868.6:c.128+51C>T (SBDS)	ENSP00000246868.2:n.128+51C>T
ENST00000414306.5:c.128+51C>T (SBDS)	ENSP00000394586.1:n.128+51C>T
ENST00000490953.5:n.277+51C>T (SBDS)
ENST00000491969.5:n.67G>A (TYW1)
ENST00000617799.1:c.127+51C>T (SBDS)	ENSP00000483040.1:n.127+51C>T
NM_016038.2:c.128+51C>T , LRG_104t1:c.128+51C>T (SBDS)	NP_057122.2:n.128+51C>T
NM_016038.3:c.128+51C>T (SBDS)	NP_057122.2:n.128+51C>T
NM_016038.4:c.128+51C>T (SBDS) MANE Select	NP_057122.2:n.128+51C>T