Canonical Allele Identifier: CA2578901456

Gene: SBDS

Linked Data

• gnomAD v4: 7-66993435-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993435C>G , CM000669.2:g.66993435C>G	GRCh38
NC_000007.13:g.66458422C>G , CM000669.1:g.66458422C>G	GRCh37
NC_000007.12:g.66095857C>G	NCBI36
NG_007277.1:g.7167G>C , LRG_104:g.7167G>C
NG_033069.1:g.1631C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.251-18G>C	ENSP00000394586.1:n.251-18G>C
ENST00000697860.1:n.226-18G>C
ENST00000697861.1:c.258+777G>C	ENSP00000513460.1:n.258+777G>C
ENST00000697862.1:c.259-18G>C	ENSP00000513461.1:n.259-18G>C
ENST00000697863.1:c.202-18G>C	ENSP00000513462.1:n.202-18G>C
ENST00000697864.1:n.1403-18G>C
ENST00000697865.1:c.202-18G>C	ENSP00000513463.1:n.202-18G>C
ENST00000697866.1:c.-60-18G>C	ENSP00000513464.1:n.-60-18G>C
ENST00000697867.1:c.99-18G>C
ENST00000697868.1:c.*23-18G>C	ENSP00000513466.1:n.*23-18G>C
ENST00000697869.1:c.195-18G>C	ENSP00000513467.1:n.195-18G>C
ENST00000697897.1:c.259-18G>C	ENSP00000513469.1:n.259-18G>C
ENST00000246868.7:c.259-18G>C MANE Select	ENSP00000246868.2:n.259-18G>C
ENST00000246868.6:c.259-18G>C	ENSP00000246868.2:n.259-18G>C
ENST00000414306.5:c.251-18G>C	ENSP00000394586.1:n.251-18G>C
ENST00000463579.1:n.148-18G>C
ENST00000490953.5:n.400-18G>C
ENST00000617799.1:c.259-18G>C	ENSP00000483040.1:n.259-18G>C
NM_016038.2:c.259-18G>C , LRG_104t1:c.259-18G>C	NP_057122.2:n.259-18G>C
NM_016038.3:c.259-18G>C	NP_057122.2:n.259-18G>C
NM_016038.4:c.259-18G>C MANE Select	NP_057122.2:n.259-18G>C