Canonical Allele Identifier: CA1714331651

Gene: SBDS

Linked Data

• dbSNP Id: rs1793019238
• gnomAD v3: 7-66993478-A-G
• gnomAD v4: 7-66993478-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993478A>G , CM000669.2:g.66993478A>G	GRCh38
NC_000007.13:g.66458465A>G , CM000669.1:g.66458465A>G	GRCh37
NC_000007.12:g.66095900A>G	NCBI36
NG_007277.1:g.7124T>C , LRG_104:g.7124T>C
NG_033069.1:g.1674A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.251-61T>C	ENSP00000394586.1:n.251-61T>C
ENST00000697860.1:n.226-61T>C
ENST00000697861.1:c.258+734T>C	ENSP00000513460.1:n.258+734T>C
ENST00000697862.1:c.259-61T>C	ENSP00000513461.1:n.259-61T>C
ENST00000697863.1:c.202-61T>C	ENSP00000513462.1:n.202-61T>C
ENST00000697864.1:n.1403-61T>C
ENST00000697865.1:c.202-61T>C	ENSP00000513463.1:n.202-61T>C
ENST00000697866.1:c.-60-61T>C	ENSP00000513464.1:n.-60-61T>C
ENST00000697867.1:c.99-61T>C
ENST00000697868.1:c.*23-61T>C	ENSP00000513466.1:n.*23-61T>C
ENST00000697869.1:c.195-61T>C	ENSP00000513467.1:n.195-61T>C
ENST00000697897.1:c.259-61T>C	ENSP00000513469.1:n.259-61T>C
ENST00000246868.7:c.259-61T>C MANE Select	ENSP00000246868.2:n.259-61T>C
ENST00000246868.6:c.259-61T>C	ENSP00000246868.2:n.259-61T>C
ENST00000414306.5:c.251-61T>C	ENSP00000394586.1:n.251-61T>C
ENST00000463579.1:n.148-61T>C
ENST00000490953.5:n.400-61T>C
ENST00000617799.1:c.259-61T>C	ENSP00000483040.1:n.259-61T>C
NM_016038.2:c.259-61T>C , LRG_104t1:c.259-61T>C	NP_057122.2:n.259-61T>C
NM_016038.3:c.259-61T>C	NP_057122.2:n.259-61T>C
NM_016038.4:c.259-61T>C MANE Select	NP_057122.2:n.259-61T>C