Canonical Allele Identifier: CA159927476

Gene: SBDS TYW1

Linked Data

• dbSNP Id: rs1005565290
• gnomAD v3: 7-66995213-C-G
• gnomAD v4: 7-66995213-C-G
• MyVariant Identifiers: chr7:g.66460200C>G (hg19) ; chr7:g.66995213C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66995213C>G , CM000669.2:g.66995213C>G	GRCh38
NC_000007.13:g.66460200C>G , CM000669.1:g.66460200C>G	GRCh37
NC_000007.12:g.66097635C>G	NCBI36
NG_007277.1:g.5389G>C , LRG_104:g.5389G>C
NG_033069.1:g.3409C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.128+77G>C (SBDS)	ENSP00000394586.1:n.128+77G>C
ENST00000697861.1:c.128+77G>C (SBDS)	ENSP00000513460.1:n.128+77G>C
ENST00000697862.1:c.128+77G>C (SBDS)	ENSP00000513461.1:n.128+77G>C
ENST00000697863.1:c.71+77G>C (SBDS)	ENSP00000513462.1:n.71+77G>C
ENST00000697864.1:n.401G>C (SBDS)
ENST00000697865.1:c.71+77G>C (SBDS)	ENSP00000513463.1:n.71+77G>C
ENST00000697866.1:c.-306G>C (SBDS)	ENSP00000513464.1:n.-306G>C
ENST00000697868.1:c.128+77G>C (SBDS)	ENSP00000513466.1:n.128+77G>C
ENST00000697869.1:c.128+77G>C (SBDS)	ENSP00000513467.1:n.128+77G>C
ENST00000697897.1:c.128+77G>C (SBDS)	ENSP00000513469.1:n.128+77G>C
ENST00000246868.7:c.128+77G>C (SBDS) MANE Select	ENSP00000246868.2:n.128+77G>C
ENST00000246868.6:c.128+77G>C (SBDS)	ENSP00000246868.2:n.128+77G>C
ENST00000414306.5:c.128+77G>C (SBDS)	ENSP00000394586.1:n.128+77G>C
ENST00000490953.5:n.277+77G>C (SBDS)
ENST00000491969.5:n.41C>G (TYW1)
ENST00000617799.1:c.127+77G>C (SBDS)	ENSP00000483040.1:n.127+77G>C
NM_016038.2:c.128+77G>C , LRG_104t1:c.128+77G>C (SBDS)	NP_057122.2:n.128+77G>C
NM_016038.3:c.128+77G>C (SBDS)	NP_057122.2:n.128+77G>C
NM_016038.4:c.128+77G>C (SBDS) MANE Select	NP_057122.2:n.128+77G>C