Canonical Allele Identifier: CA10625598

Gene: OSTM1

Linked Data

• ClinVar Variation Id: 354971
• ClinVar RCV Id: RCV000295325
• dbSNP Id: rs886060968
• gnomAD v2: 6-108365036-G-A
• gnomAD v3: 6-108043832-G-A
• gnomAD v4: 6-108043832-G-A
• MyVariant Identifiers: chr6:g.108365036G>A (hg19) ; chr6:g.108043832G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.108043832G>A , CM000668.2:g.108043832G>A	GRCh38
NC_000006.11:g.108365036G>A , CM000668.1:g.108365036G>A	GRCh37
NC_000006.10:g.108471729G>A	NCBI36
NG_007262.1:g.35906C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467960.2:c.*1668C>T	ENSP00000514449.1:n.*1668C>T
ENST00000477774.2:n.1312C>T
ENST00000492130.2:c.*953C>T	ENSP00000514453.1:n.*953C>T
ENST00000699569.1:c.*953C>T	ENSP00000514443.1:n.*953C>T
ENST00000699570.1:n.2412C>T
ENST00000699571.1:n.1674C>T
ENST00000699572.1:c.*1185C>T	ENSP00000514444.1:n.*1185C>T
ENST00000699573.1:c.*953C>T	ENSP00000514445.1:n.*953C>T
ENST00000699574.1:c.*1802C>T	ENSP00000514446.1:n.*1802C>T
ENST00000699575.1:c.*1666C>T	ENSP00000514447.1:n.*1666C>T
ENST00000699576.1:c.*1659C>T	ENSP00000514448.1:n.*1659C>T
ENST00000699577.1:c.*953C>T	ENSP00000514450.1:n.*953C>T
ENST00000699578.1:c.*1185C>T	ENSP00000514451.1:n.*1185C>T
ENST00000699579.1:c.*1116C>T	ENSP00000514452.1:n.*1116C>T
ENST00000699580.1:c.*953C>T	ENSP00000514454.1:n.*953C>T
ENST00000699581.1:c.*953C>T	ENSP00000514455.1:n.*953C>T
ENST00000193322.8:c.*953C>T MANE Select	ENSP00000193322.3:n.*953C>T
ENST00000193322.7:c.*953C>T	ENSP00000193322.3:n.*953C>T
ENST00000492130.1:n.407C>T
NM_014028.3:c.*953C>T	NP_054747.2:n.*953C>T
XM_011535775.1:c.*953C>T	XP_011534077.1:n.*953C>T
XM_011535776.1:c.*953C>T	XP_011534078.1:n.*953C>T
XR_942410.3:n.2092C>T
NM_014028.4:c.*953C>T MANE Select	NP_054747.2:n.*953C>T