Canonical Allele Identifier: CA367643981

Gene: SBDS

Linked Data

• gnomAD v4: 7-66988381-T-G
• MyVariant Identifiers: chr7:g.66453368T>G (hg19) ; chr7:g.66988381T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988381T>G , CM000669.2:g.66988381T>G	GRCh38
NC_000007.13:g.66453368T>G , CM000669.1:g.66453368T>G	GRCh37
NC_000007.12:g.66090803T>G	NCBI36
NG_007277.1:g.12221A>C , LRG_104:g.12221A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*474A>C	ENSP00000394586.1:n.*474A>C
ENST00000697860.1:n.710A>C
ENST00000697861.1:c.542A>C	ENSP00000513460.1:p.Lys181Thr
ENST00000697862.1:c.*184A>C	ENSP00000513461.1:n.*184A>C
ENST00000697863.1:c.686A>C	ENSP00000513462.1:p.Lys229Thr
ENST00000697864.1:n.1887A>C
ENST00000697865.1:c.686A>C	ENSP00000513463.1:p.Lys229Thr
ENST00000697866.1:c.425A>C	ENSP00000513464.1:p.Lys142Thr
ENST00000697867.1:c.721A>C
ENST00000697868.1:c.*507A>C	ENSP00000513466.1:n.*507A>C
ENST00000697897.1:c.743A>C	ENSP00000513469.1:p.Lys248Thr
ENST00000246868.7:c.743A>C MANE Select	ENSP00000246868.2:p.Lys248Thr
ENST00000246868.6:c.743A>C	ENSP00000246868.2:p.Lys248Thr
ENST00000414306.5:c.*474A>C	ENSP00000394586.1:n.*474A>C
ENST00000617799.1:c.743A>C	ENSP00000483040.1:p.Lys248Thr
NM_016038.2:c.743A>C , LRG_104t1:c.743A>C	NP_057122.2:p.Lys248Thr
NM_016038.3:c.743A>C	NP_057122.2:p.Lys248Thr
NM_016038.4:c.743A>C MANE Select	NP_057122.2:p.Lys248Thr