Canonical Allele Identifier: CA367643948

Gene: SBDS

Linked Data

• dbSNP Id: rs1476899918
• gnomAD v2: 7-66453363-C-A
• gnomAD v3: 7-66988376-C-A
• gnomAD v4: 7-66988376-C-A
• MyVariant Identifiers: chr7:g.66453363C>A (hg19) ; chr7:g.66988376C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988376C>A , CM000669.2:g.66988376C>A	GRCh38
NC_000007.13:g.66453363C>A , CM000669.1:g.66453363C>A	GRCh37
NC_000007.12:g.66090798C>A	NCBI36
NG_007277.1:g.12226G>T , LRG_104:g.12226G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*479G>T	ENSP00000394586.1:n.*479G>T
ENST00000697860.1:n.715G>T
ENST00000697861.1:c.547G>T	ENSP00000513460.1:p.Glu183Ter
ENST00000697862.1:c.*189G>T	ENSP00000513461.1:n.*189G>T
ENST00000697863.1:c.691G>T	ENSP00000513462.1:p.Glu231Ter
ENST00000697864.1:n.1892G>T
ENST00000697865.1:c.691G>T	ENSP00000513463.1:p.Glu231Ter
ENST00000697866.1:c.430G>T	ENSP00000513464.1:p.Glu144Ter
ENST00000697867.1:c.726G>T
ENST00000697868.1:c.*512G>T	ENSP00000513466.1:n.*512G>T
ENST00000697897.1:c.748G>T	ENSP00000513469.1:p.Glu250Ter
ENST00000246868.7:c.748G>T MANE Select	ENSP00000246868.2:p.Glu250Ter
ENST00000246868.6:c.748G>T	ENSP00000246868.2:p.Glu250Ter
ENST00000414306.5:c.*479G>T	ENSP00000394586.1:n.*479G>T
ENST00000617799.1:c.748G>T	ENSP00000483040.1:p.Glu250Ter
NM_016038.2:c.748G>T , LRG_104t1:c.748G>T	NP_057122.2:p.Glu250Ter
NM_016038.3:c.748G>T	NP_057122.2:p.Glu250Ter
NM_016038.4:c.748G>T MANE Select	NP_057122.2:p.Glu250Ter