Canonical Allele Identifier: CA367649783

Gene: SBDS

Linked Data

• gnomAD v4: 7-66993292-G-T
• MyVariant Identifiers: chr7:g.66458279G>T (hg19) ; chr7:g.66993292G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993292G>T , CM000669.2:g.66993292G>T	GRCh38
NC_000007.13:g.66458279G>T , CM000669.1:g.66458279G>T	GRCh37
NC_000007.12:g.66095714G>T	NCBI36
NG_007277.1:g.7310C>A , LRG_104:g.7310C>A
NG_033069.1:g.1488G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*115C>A	ENSP00000394586.1:n.*115C>A
ENST00000697860.1:n.351C>A
ENST00000697861.1:c.258+920C>A	ENSP00000513460.1:n.258+920C>A
ENST00000697862.1:c.384C>A	ENSP00000513461.1:p.Tyr128Ter
ENST00000697863.1:c.327C>A	ENSP00000513462.1:p.Tyr109Ter
ENST00000697864.1:n.1528C>A
ENST00000697865.1:c.327C>A	ENSP00000513463.1:p.Tyr109Ter
ENST00000697866.1:c.66C>A	ENSP00000513464.1:p.Tyr22Ter
ENST00000697867.1:c.224C>A
ENST00000697868.1:c.*148C>A	ENSP00000513466.1:n.*148C>A
ENST00000697869.1:c.*119C>A	ENSP00000513467.1:n.*119C>A
ENST00000697897.1:c.384C>A	ENSP00000513469.1:p.Tyr128Ter
ENST00000246868.7:c.384C>A MANE Select	ENSP00000246868.2:p.Tyr128Ter
ENST00000246868.6:c.384C>A	ENSP00000246868.2:p.Tyr128Ter
ENST00000414306.5:c.*115C>A	ENSP00000394586.1:n.*115C>A
ENST00000463579.1:n.273C>A
ENST00000490953.5:n.525C>A
ENST00000617799.1:c.384C>A	ENSP00000483040.1:p.Tyr128Ter
NM_016038.2:c.384C>A , LRG_104t1:c.384C>A	NP_057122.2:p.Tyr128Ter
NM_016038.3:c.384C>A	NP_057122.2:p.Tyr128Ter
NM_016038.4:c.384C>A MANE Select	NP_057122.2:p.Tyr128Ter