Canonical Allele Identifier: CA367644585

Gene: SBDS

Linked Data

• gnomAD v4: 7-66988484-G-T
• MyVariant Identifiers: chr7:g.66453471G>T (hg19) ; chr7:g.66988484G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988484G>T , CM000669.2:g.66988484G>T	GRCh38
NC_000007.13:g.66453471G>T , CM000669.1:g.66453471G>T	GRCh37
NC_000007.12:g.66090906G>T	NCBI36
NG_007277.1:g.12118C>A , LRG_104:g.12118C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*371C>A	ENSP00000394586.1:n.*371C>A
ENST00000697860.1:n.607C>A
ENST00000697861.1:c.439C>A	ENSP00000513460.1:p.Pro147Thr
ENST00000697862.1:c.*81C>A	ENSP00000513461.1:n.*81C>A
ENST00000697863.1:c.583C>A	ENSP00000513462.1:p.Pro195Thr
ENST00000697864.1:n.1784C>A
ENST00000697865.1:c.583C>A	ENSP00000513463.1:p.Pro195Thr
ENST00000697866.1:c.322C>A	ENSP00000513464.1:p.Pro108Thr
ENST00000697867.1:c.618C>A
ENST00000697868.1:c.*404C>A	ENSP00000513466.1:n.*404C>A
ENST00000697897.1:c.640C>A	ENSP00000513469.1:p.Pro214Thr
ENST00000246868.7:c.640C>A MANE Select	ENSP00000246868.2:p.Pro214Thr
ENST00000246868.6:c.640C>A	ENSP00000246868.2:p.Pro214Thr
ENST00000414306.5:c.*371C>A	ENSP00000394586.1:n.*371C>A
ENST00000617799.1:c.640C>A	ENSP00000483040.1:p.Pro214Thr
NM_016038.2:c.640C>A , LRG_104t1:c.640C>A	NP_057122.2:p.Pro214Thr
NM_016038.3:c.640C>A	NP_057122.2:p.Pro214Thr
NM_016038.4:c.640C>A MANE Select	NP_057122.2:p.Pro214Thr