Canonical Allele Identifier: CA574869121

Gene: SBDS

Linked Data

• dbSNP Id: rs764449646
• gnomAD v2: 7-66458423-A-G
• gnomAD v4: 7-66993436-A-G
• MyVariant Identifiers: chr7:g.66458423A>G (hg19) ; chr7:g.66993436A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993436A>G , CM000669.2:g.66993436A>G	GRCh38
NC_000007.13:g.66458423A>G , CM000669.1:g.66458423A>G	GRCh37
NC_000007.12:g.66095858A>G	NCBI36
NG_007277.1:g.7166T>C , LRG_104:g.7166T>C
NG_033069.1:g.1632A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.251-19T>C	ENSP00000394586.1:n.251-19T>C
ENST00000697860.1:n.226-19T>C
ENST00000697861.1:c.258+776T>C	ENSP00000513460.1:n.258+776T>C
ENST00000697862.1:c.259-19T>C	ENSP00000513461.1:n.259-19T>C
ENST00000697863.1:c.202-19T>C	ENSP00000513462.1:n.202-19T>C
ENST00000697864.1:n.1403-19T>C
ENST00000697865.1:c.202-19T>C	ENSP00000513463.1:n.202-19T>C
ENST00000697866.1:c.-60-19T>C	ENSP00000513464.1:n.-60-19T>C
ENST00000697867.1:c.99-19T>C
ENST00000697868.1:c.*23-19T>C	ENSP00000513466.1:n.*23-19T>C
ENST00000697869.1:c.195-19T>C	ENSP00000513467.1:n.195-19T>C
ENST00000697897.1:c.259-19T>C	ENSP00000513469.1:n.259-19T>C
ENST00000246868.7:c.259-19T>C MANE Select	ENSP00000246868.2:n.259-19T>C
ENST00000246868.6:c.259-19T>C	ENSP00000246868.2:n.259-19T>C
ENST00000414306.5:c.251-19T>C	ENSP00000394586.1:n.251-19T>C
ENST00000463579.1:n.148-19T>C
ENST00000490953.5:n.400-19T>C
ENST00000617799.1:c.259-19T>C	ENSP00000483040.1:n.259-19T>C
NM_016038.2:c.259-19T>C , LRG_104t1:c.259-19T>C	NP_057122.2:n.259-19T>C
NM_016038.3:c.259-19T>C	NP_057122.2:n.259-19T>C
NM_016038.4:c.259-19T>C MANE Select	NP_057122.2:n.259-19T>C