Canonical Allele Identifier: CA367650615

Gene: SBDS

Linked Data

• gnomAD v4: 7-66993386-T-C
• MyVariant Identifiers: chr7:g.66458373T>C (hg19) ; chr7:g.66993386T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993386T>C , CM000669.2:g.66993386T>C	GRCh38
NC_000007.13:g.66458373T>C , CM000669.1:g.66458373T>C	GRCh37
NC_000007.12:g.66095808T>C	NCBI36
NG_007277.1:g.7216A>G , LRG_104:g.7216A>G
NG_033069.1:g.1582T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*21A>G	ENSP00000394586.1:n.*21A>G
ENST00000697860.1:n.257A>G
ENST00000697861.1:c.258+826A>G	ENSP00000513460.1:n.258+826A>G
ENST00000697862.1:c.290A>G	ENSP00000513461.1:p.Asp97Gly
ENST00000697863.1:c.233A>G	ENSP00000513462.1:p.Asp78Gly
ENST00000697864.1:n.1434A>G
ENST00000697865.1:c.233A>G	ENSP00000513463.1:p.Asp78Gly
ENST00000697866.1:c.-29A>G	ENSP00000513464.1:n.-29A>G
ENST00000697867.1:c.130A>G
ENST00000697868.1:c.*54A>G	ENSP00000513466.1:n.*54A>G
ENST00000697869.1:c.*25A>G	ENSP00000513467.1:n.*25A>G
ENST00000697897.1:c.290A>G	ENSP00000513469.1:p.Asp97Gly
ENST00000246868.7:c.290A>G MANE Select	ENSP00000246868.2:p.Asp97Gly
ENST00000246868.6:c.290A>G	ENSP00000246868.2:p.Asp97Gly
ENST00000414306.5:c.*21A>G	ENSP00000394586.1:n.*21A>G
ENST00000463579.1:n.179A>G
ENST00000490953.5:n.431A>G
ENST00000617799.1:c.290A>G	ENSP00000483040.1:p.Asp97Gly
NM_016038.2:c.290A>G , LRG_104t1:c.290A>G	NP_057122.2:p.Asp97Gly
NM_016038.3:c.290A>G	NP_057122.2:p.Asp97Gly
NM_016038.4:c.290A>G MANE Select	NP_057122.2:p.Asp97Gly