Canonical Allele Identifier: CA367644006

Gene: SBDS

Linked Data

• gnomAD v4: 7-66988385-C-A
• MyVariant Identifiers: chr7:g.66453372C>A (hg19) ; chr7:g.66988385C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988385C>A , CM000669.2:g.66988385C>A	GRCh38
NC_000007.13:g.66453372C>A , CM000669.1:g.66453372C>A	GRCh37
NC_000007.12:g.66090807C>A	NCBI36
NG_007277.1:g.12217G>T , LRG_104:g.12217G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*470G>T	ENSP00000394586.1:n.*470G>T
ENST00000697860.1:n.706G>T
ENST00000697861.1:c.538G>T	ENSP00000513460.1:p.Glu180Ter
ENST00000697862.1:c.*180G>T	ENSP00000513461.1:n.*180G>T
ENST00000697863.1:c.682G>T	ENSP00000513462.1:p.Glu228Ter
ENST00000697864.1:n.1883G>T
ENST00000697865.1:c.682G>T	ENSP00000513463.1:p.Glu228Ter
ENST00000697866.1:c.421G>T	ENSP00000513464.1:p.Glu141Ter
ENST00000697867.1:c.717G>T
ENST00000697868.1:c.*503G>T	ENSP00000513466.1:n.*503G>T
ENST00000697897.1:c.739G>T	ENSP00000513469.1:p.Glu247Ter
ENST00000246868.7:c.739G>T MANE Select	ENSP00000246868.2:p.Glu247Ter
ENST00000246868.6:c.739G>T	ENSP00000246868.2:p.Glu247Ter
ENST00000414306.5:c.*470G>T	ENSP00000394586.1:n.*470G>T
ENST00000617799.1:c.739G>T	ENSP00000483040.1:p.Glu247Ter
NM_016038.2:c.739G>T , LRG_104t1:c.739G>T	NP_057122.2:p.Glu247Ter
NM_016038.3:c.739G>T	NP_057122.2:p.Glu247Ter
NM_016038.4:c.739G>T MANE Select	NP_057122.2:p.Glu247Ter