Canonical Allele Identifier: CA10622725

Gene: OSTM1

Linked Data

• ClinVar Variation Id: 354978
• ClinVar RCV Id: RCV000340777
• dbSNP Id: rs17069239
• gnomAD v2: 6-108365777-T-C
• gnomAD v3: 6-108044573-T-C
• gnomAD v4: 6-108044573-T-C
• MyVariant Identifiers: chr6:g.108365777T>C (hg19) ; chr6:g.108044573T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.108044573T>C , CM000668.2:g.108044573T>C	GRCh38
NC_000006.11:g.108365777T>C , CM000668.1:g.108365777T>C	GRCh37
NC_000006.10:g.108472470T>C	NCBI36
NG_007262.1:g.35165A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467960.2:c.*927A>G	ENSP00000514449.1:n.*927A>G
ENST00000477774.2:n.571A>G
ENST00000492130.2:c.*212A>G	ENSP00000514453.1:n.*212A>G
ENST00000699569.1:c.*212A>G	ENSP00000514443.1:n.*212A>G
ENST00000699570.1:n.1671A>G
ENST00000699571.1:n.933A>G
ENST00000699572.1:c.*444A>G	ENSP00000514444.1:n.*444A>G
ENST00000699573.1:c.*212A>G	ENSP00000514445.1:n.*212A>G
ENST00000699574.1:c.*1061A>G	ENSP00000514446.1:n.*1061A>G
ENST00000699575.1:c.*925A>G	ENSP00000514447.1:n.*925A>G
ENST00000699576.1:c.*918A>G	ENSP00000514448.1:n.*918A>G
ENST00000699577.1:c.*212A>G	ENSP00000514450.1:n.*212A>G
ENST00000699578.1:c.*444A>G	ENSP00000514451.1:n.*444A>G
ENST00000699579.1:c.*375A>G	ENSP00000514452.1:n.*375A>G
ENST00000699580.1:c.*212A>G	ENSP00000514454.1:n.*212A>G
ENST00000699581.1:c.*212A>G	ENSP00000514455.1:n.*212A>G
ENST00000193322.8:c.*212A>G MANE Select	ENSP00000193322.3:n.*212A>G
ENST00000193322.7:c.*212A>G	ENSP00000193322.3:n.*212A>G
ENST00000472669.5:n.522A>G
NM_014028.3:c.*212A>G	NP_054747.2:n.*212A>G
XM_011535775.1:c.*212A>G	XP_011534077.1:n.*212A>G
XM_011535776.1:c.*212A>G	XP_011534078.1:n.*212A>G
XR_942410.3:n.1351A>G
NM_014028.4:c.*212A>G MANE Select	NP_054747.2:n.*212A>G