Canonical Allele Identifier: CA367650568

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66458369T>A (hg19) ; chr7:g.66993382T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993382T>A , CM000669.2:g.66993382T>A	GRCh38
NC_000007.13:g.66458369T>A , CM000669.1:g.66458369T>A	GRCh37
NC_000007.12:g.66095804T>A	NCBI36
NG_007277.1:g.7220A>T , LRG_104:g.7220A>T
NG_033069.1:g.1578T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*25A>T	ENSP00000394586.1:n.*25A>T
ENST00000697860.1:n.261A>T
ENST00000697861.1:c.258+830A>T	ENSP00000513460.1:n.258+830A>T
ENST00000697862.1:c.294A>T	ENSP00000513461.1:p.Lys98Asn
ENST00000697863.1:c.237A>T	ENSP00000513462.1:p.Lys79Asn
ENST00000697864.1:n.1438A>T
ENST00000697865.1:c.237A>T	ENSP00000513463.1:p.Lys79Asn
ENST00000697866.1:c.-25A>T	ENSP00000513464.1:n.-25A>T
ENST00000697867.1:c.134A>T
ENST00000697868.1:c.*58A>T	ENSP00000513466.1:n.*58A>T
ENST00000697869.1:c.*29A>T	ENSP00000513467.1:n.*29A>T
ENST00000697897.1:c.294A>T	ENSP00000513469.1:p.Lys98Asn
ENST00000246868.7:c.294A>T MANE Select	ENSP00000246868.2:p.Lys98Asn
ENST00000246868.6:c.294A>T	ENSP00000246868.2:p.Lys98Asn
ENST00000414306.5:c.*25A>T	ENSP00000394586.1:n.*25A>T
ENST00000463579.1:n.183A>T
ENST00000490953.5:n.435A>T
ENST00000617799.1:c.294A>T	ENSP00000483040.1:p.Lys98Asn
NM_016038.2:c.294A>T , LRG_104t1:c.294A>T	NP_057122.2:p.Lys98Asn
NM_016038.3:c.294A>T	NP_057122.2:p.Lys98Asn
NM_016038.4:c.294A>T MANE Select	NP_057122.2:p.Lys98Asn