Canonical Allele Identifier: CA367645921

Gene: SBDS

Linked Data

• gnomAD v4: 7-66991165-C-T
• MyVariant Identifiers: chr7:g.66456152C>T (hg19) ; chr7:g.66991165C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66991165C>T , CM000669.2:g.66991165C>T	GRCh38
NC_000007.13:g.66456152C>T , CM000669.1:g.66456152C>T	GRCh37
NC_000007.12:g.66093587C>T	NCBI36
NG_007277.1:g.9437G>A , LRG_104:g.9437G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*327G>A	ENSP00000394586.1:n.*327G>A
ENST00000697860.1:n.563G>A
ENST00000697861.1:c.395G>A	ENSP00000513460.1:p.Ser132Asn
ENST00000697862.1:c.*37G>A	ENSP00000513461.1:n.*37G>A
ENST00000697863.1:c.539G>A	ENSP00000513462.1:p.Ser180Asn
ENST00000697864.1:n.1740G>A
ENST00000697865.1:c.539G>A	ENSP00000513463.1:p.Ser180Asn
ENST00000697866.1:c.278G>A	ENSP00000513464.1:p.Ser93Asn
ENST00000697867.1:c.436G>A
ENST00000697868.1:c.*360G>A	ENSP00000513466.1:n.*360G>A
ENST00000697897.1:c.596G>A	ENSP00000513469.1:p.Ser199Asn
ENST00000246868.7:c.596G>A MANE Select	ENSP00000246868.2:p.Ser199Asn
ENST00000246868.6:c.596G>A	ENSP00000246868.2:p.Ser199Asn
ENST00000414306.5:c.*327G>A	ENSP00000394586.1:n.*327G>A
ENST00000463579.1:n.485G>A
ENST00000490953.5:n.737G>A
ENST00000617799.1:c.596G>A	ENSP00000483040.1:p.Ser199Asn
NM_016038.2:c.596G>A , LRG_104t1:c.596G>A	NP_057122.2:p.Ser199Asn
NM_016038.3:c.596G>A	NP_057122.2:p.Ser199Asn
NM_016038.4:c.596G>A MANE Select	NP_057122.2:p.Ser199Asn