Canonical Allele Identifier: CA10622695

Gene: OSTM1

Linked Data

• ClinVar Variation Id: 354934
• ClinVar RCV Id: RCV000287739
• dbSNP Id: rs111332944
• gnomAD v2: 6-108363442-C-T
• gnomAD v3: 6-108042238-C-T
• gnomAD v4: 6-108042238-C-T
• MyVariant Identifiers: chr6:g.108363442C>T (hg19) ; chr6:g.108042238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.108042238C>T , CM000668.2:g.108042238C>T	GRCh38
NC_000006.11:g.108363442C>T , CM000668.1:g.108363442C>T	GRCh37
NC_000006.10:g.108470135C>T	NCBI36
NG_007262.1:g.37500G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467960.2:c.*3262G>A	ENSP00000514449.1:n.*3262G>A
ENST00000477774.2:n.2906G>A
ENST00000492130.2:c.*2245G>A	ENSP00000514453.1:n.*2245G>A
ENST00000699569.1:c.*2218+329G>A	ENSP00000514443.1:n.*2218+329G>A
ENST00000699570.1:n.4006G>A
ENST00000699571.1:n.3268G>A
ENST00000699572.1:c.*2779G>A	ENSP00000514444.1:n.*2779G>A
ENST00000699573.1:c.*2547G>A	ENSP00000514445.1:n.*2547G>A
ENST00000699574.1:c.*3396G>A	ENSP00000514446.1:n.*3396G>A
ENST00000699575.1:c.*3260G>A	ENSP00000514447.1:n.*3260G>A
ENST00000699576.1:c.*3253G>A	ENSP00000514448.1:n.*3253G>A
ENST00000699577.1:c.*2547G>A	ENSP00000514450.1:n.*2547G>A
ENST00000699578.1:c.*2779G>A	ENSP00000514451.1:n.*2779G>A
ENST00000699579.1:c.*2710G>A	ENSP00000514452.1:n.*2710G>A
ENST00000699580.1:c.*2547G>A	ENSP00000514454.1:n.*2547G>A
ENST00000699581.1:c.*2547G>A	ENSP00000514455.1:n.*2547G>A
ENST00000193322.8:c.*2547G>A MANE Select	ENSP00000193322.3:n.*2547G>A
ENST00000193322.7:c.*2547G>A	ENSP00000193322.3:n.*2547G>A
ENST00000492130.1:n.1699G>A
NM_014028.3:c.*2547G>A	NP_054747.2:n.*2547G>A
NM_014028.4:c.*2547G>A MANE Select	NP_054747.2:n.*2547G>A