Canonical Allele Identifier: CA10622717

Gene: OSTM1

Linked Data

• ClinVar Variation Id: 354973
• ClinVar RCV Id: RCV000372152
• dbSNP Id: rs756978751
• gnomAD v2: 6-108365211-A-C
• gnomAD v3: 6-108044007-A-C
• gnomAD v4: 6-108044007-A-C
• MyVariant Identifiers: chr6:g.108365211A>C (hg19) ; chr6:g.108044007A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.108044007A>C , CM000668.2:g.108044007A>C	GRCh38
NC_000006.11:g.108365211A>C , CM000668.1:g.108365211A>C	GRCh37
NC_000006.10:g.108471904A>C	NCBI36
NG_007262.1:g.35731T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000467960.2:c.*1493T>G	ENSP00000514449.1:n.*1493T>G
ENST00000477774.2:n.1137T>G
ENST00000492130.2:c.*778T>G	ENSP00000514453.1:n.*778T>G
ENST00000699569.1:c.*778T>G	ENSP00000514443.1:n.*778T>G
ENST00000699570.1:n.2237T>G
ENST00000699571.1:n.1499T>G
ENST00000699572.1:c.*1010T>G	ENSP00000514444.1:n.*1010T>G
ENST00000699573.1:c.*778T>G	ENSP00000514445.1:n.*778T>G
ENST00000699574.1:c.*1627T>G	ENSP00000514446.1:n.*1627T>G
ENST00000699575.1:c.*1491T>G	ENSP00000514447.1:n.*1491T>G
ENST00000699576.1:c.*1484T>G	ENSP00000514448.1:n.*1484T>G
ENST00000699577.1:c.*778T>G	ENSP00000514450.1:n.*778T>G
ENST00000699578.1:c.*1010T>G	ENSP00000514451.1:n.*1010T>G
ENST00000699579.1:c.*941T>G	ENSP00000514452.1:n.*941T>G
ENST00000699580.1:c.*778T>G	ENSP00000514454.1:n.*778T>G
ENST00000699581.1:c.*778T>G	ENSP00000514455.1:n.*778T>G
ENST00000193322.8:c.*778T>G MANE Select	ENSP00000193322.3:n.*778T>G
ENST00000193322.7:c.*778T>G	ENSP00000193322.3:n.*778T>G
ENST00000492130.1:n.232T>G
NM_014028.3:c.*778T>G	NP_054747.2:n.*778T>G
XM_011535775.1:c.*778T>G	XP_011534077.1:n.*778T>G
XM_011535776.1:c.*778T>G	XP_011534078.1:n.*778T>G
XR_942410.3:n.1917T>G
NM_014028.4:c.*778T>G MANE Select	NP_054747.2:n.*778T>G