Canonical Allele Identifier: CA367649828

Gene: SBDS

Linked Data

• gnomAD v4: 7-66993297-G-T
• MyVariant Identifiers: chr7:g.66458284G>T (hg19) ; chr7:g.66993297G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993297G>T , CM000669.2:g.66993297G>T	GRCh38
NC_000007.13:g.66458284G>T , CM000669.1:g.66458284G>T	GRCh37
NC_000007.12:g.66095719G>T	NCBI36
NG_007277.1:g.7305C>A , LRG_104:g.7305C>A
NG_033069.1:g.1493G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*110C>A	ENSP00000394586.1:n.*110C>A
ENST00000697860.1:n.346C>A
ENST00000697861.1:c.258+915C>A	ENSP00000513460.1:n.258+915C>A
ENST00000697862.1:c.379C>A	ENSP00000513461.1:p.Pro127Thr
ENST00000697863.1:c.322C>A	ENSP00000513462.1:p.Pro108Thr
ENST00000697864.1:n.1523C>A
ENST00000697865.1:c.322C>A	ENSP00000513463.1:p.Pro108Thr
ENST00000697866.1:c.61C>A	ENSP00000513464.1:p.Pro21Thr
ENST00000697867.1:c.219C>A
ENST00000697868.1:c.*143C>A	ENSP00000513466.1:n.*143C>A
ENST00000697869.1:c.*114C>A	ENSP00000513467.1:n.*114C>A
ENST00000697897.1:c.379C>A	ENSP00000513469.1:p.Pro127Thr
ENST00000246868.7:c.379C>A MANE Select	ENSP00000246868.2:p.Pro127Thr
ENST00000246868.6:c.379C>A	ENSP00000246868.2:p.Pro127Thr
ENST00000414306.5:c.*110C>A	ENSP00000394586.1:n.*110C>A
ENST00000463579.1:n.268C>A
ENST00000490953.5:n.520C>A
ENST00000617799.1:c.379C>A	ENSP00000483040.1:p.Pro127Thr
NM_016038.2:c.379C>A , LRG_104t1:c.379C>A	NP_057122.2:p.Pro127Thr
NM_016038.3:c.379C>A	NP_057122.2:p.Pro127Thr
NM_016038.4:c.379C>A MANE Select	NP_057122.2:p.Pro127Thr