Canonical Allele Identifier: CA367649847

Gene: SBDS

Linked Data

• gnomAD v4: 7-66993301-C-G
• MyVariant Identifiers: chr7:g.66458288C>G (hg19) ; chr7:g.66993301C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993301C>G , CM000669.2:g.66993301C>G	GRCh38
NC_000007.13:g.66458288C>G , CM000669.1:g.66458288C>G	GRCh37
NC_000007.12:g.66095723C>G	NCBI36
NG_007277.1:g.7301G>C , LRG_104:g.7301G>C
NG_033069.1:g.1497C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*106G>C	ENSP00000394586.1:n.*106G>C
ENST00000697860.1:n.342G>C
ENST00000697861.1:c.258+911G>C	ENSP00000513460.1:n.258+911G>C
ENST00000697862.1:c.375G>C	ENSP00000513461.1:p.Lys125Asn
ENST00000697863.1:c.318G>C	ENSP00000513462.1:p.Lys106Asn
ENST00000697864.1:n.1519G>C
ENST00000697865.1:c.318G>C	ENSP00000513463.1:p.Lys106Asn
ENST00000697866.1:c.57G>C	ENSP00000513464.1:p.Lys19Asn
ENST00000697867.1:c.215G>C
ENST00000697868.1:c.*139G>C	ENSP00000513466.1:n.*139G>C
ENST00000697869.1:c.*110G>C	ENSP00000513467.1:n.*110G>C
ENST00000697897.1:c.375G>C	ENSP00000513469.1:p.Lys125Asn
ENST00000246868.7:c.375G>C MANE Select	ENSP00000246868.2:p.Lys125Asn
ENST00000246868.6:c.375G>C	ENSP00000246868.2:p.Lys125Asn
ENST00000414306.5:c.*106G>C	ENSP00000394586.1:n.*106G>C
ENST00000463579.1:n.264G>C
ENST00000490953.5:n.516G>C
ENST00000617799.1:c.375G>C	ENSP00000483040.1:p.Lys125Asn
NM_016038.2:c.375G>C , LRG_104t1:c.375G>C	NP_057122.2:p.Lys125Asn
NM_016038.3:c.375G>C	NP_057122.2:p.Lys125Asn
NM_016038.4:c.375G>C MANE Select	NP_057122.2:p.Lys125Asn