Canonical Allele Identifier: CA10622716

Gene: OSTM1

Linked Data

• ClinVar Variation Id: 354970
• ClinVar RCV Id: RCV000387319
• dbSNP Id: rs886060967
• gnomAD v3: 6-108043762-T-C
• gnomAD v4: 6-108043762-T-C
• MyVariant Identifiers: chr6:g.108364966T>C (hg19) ; chr6:g.108043762T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.108043762T>C , CM000668.2:g.108043762T>C	GRCh38
NC_000006.11:g.108364966T>C , CM000668.1:g.108364966T>C	GRCh37
NC_000006.10:g.108471659T>C	NCBI36
NG_007262.1:g.35976A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467960.2:c.*1738A>G	ENSP00000514449.1:n.*1738A>G
ENST00000477774.2:n.1382A>G
ENST00000492130.2:c.*1023A>G	ENSP00000514453.1:n.*1023A>G
ENST00000699569.1:c.*1023A>G	ENSP00000514443.1:n.*1023A>G
ENST00000699570.1:n.2482A>G
ENST00000699571.1:n.1744A>G
ENST00000699572.1:c.*1255A>G	ENSP00000514444.1:n.*1255A>G
ENST00000699573.1:c.*1023A>G	ENSP00000514445.1:n.*1023A>G
ENST00000699574.1:c.*1872A>G	ENSP00000514446.1:n.*1872A>G
ENST00000699575.1:c.*1736A>G	ENSP00000514447.1:n.*1736A>G
ENST00000699576.1:c.*1729A>G	ENSP00000514448.1:n.*1729A>G
ENST00000699577.1:c.*1023A>G	ENSP00000514450.1:n.*1023A>G
ENST00000699578.1:c.*1255A>G	ENSP00000514451.1:n.*1255A>G
ENST00000699579.1:c.*1186A>G	ENSP00000514452.1:n.*1186A>G
ENST00000699580.1:c.*1023A>G	ENSP00000514454.1:n.*1023A>G
ENST00000699581.1:c.*1023A>G	ENSP00000514455.1:n.*1023A>G
ENST00000193322.8:c.*1023A>G MANE Select	ENSP00000193322.3:n.*1023A>G
ENST00000193322.7:c.*1023A>G	ENSP00000193322.3:n.*1023A>G
ENST00000492130.1:n.477A>G
NM_014028.3:c.*1023A>G	NP_054747.2:n.*1023A>G
XM_011535775.1:c.*1023A>G	XP_011534077.1:n.*1023A>G
XM_011535776.1:c.*1023A>G	XP_011534078.1:n.*1023A>G
XR_942410.3:n.2162A>G
NM_014028.4:c.*1023A>G MANE Select	NP_054747.2:n.*1023A>G