Canonical Allele Identifier: CA3948147

Gene: OSTM1

Linked Data

• dbSNP Id: rs766734915
• ExAC: 6:108395825 T / C
• gnomAD v2: 6-108395825-T-C
• gnomAD v3: 6-108074621-T-C
• gnomAD v4: 6-108074621-T-C
• MyVariant Identifiers: chr6:g.108395825T>C (hg19) ; chr6:g.108074621T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.108074621T>C , CM000668.2:g.108074621T>C	GRCh38
NC_000006.11:g.108395825T>C , CM000668.1:g.108395825T>C	GRCh37
NC_000006.10:g.108502518T>C	NCBI36
NG_007262.1:g.5117A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467960.2:c.31A>G	ENSP00000514449.1:p.Arg11Gly
ENST00000492130.2:c.31A>G	ENSP00000514453.1:p.Arg11Gly
ENST00000699569.1:c.31A>G	ENSP00000514443.1:p.Arg11Gly
ENST00000699572.1:c.31A>G	ENSP00000514444.1:p.Arg11Gly
ENST00000699573.1:c.31A>G	ENSP00000514445.1:p.Arg11Gly
ENST00000699574.1:c.31A>G	ENSP00000514446.1:p.Arg11Gly
ENST00000699575.1:c.31A>G	ENSP00000514447.1:p.Arg11Gly
ENST00000699576.1:c.31A>G	ENSP00000514448.1:p.Arg11Gly
ENST00000699577.1:c.31A>G	ENSP00000514450.1:p.Arg11Gly
ENST00000699578.1:c.31A>G	ENSP00000514451.1:p.Arg11Gly
ENST00000699579.1:c.31A>G	ENSP00000514452.1:p.Arg11Gly
ENST00000699580.1:c.-40+438A>G	ENSP00000514454.1:n.-40+438A>G
ENST00000699581.1:c.-39-10322A>G	ENSP00000514455.1:n.-39-10322A>G
ENST00000699582.1:n.131A>G
ENST00000193322.8:c.31A>G MANE Select	ENSP00000193322.3:p.Arg11Gly
ENST00000193322.7:c.31A>G	ENSP00000193322.3:p.Arg11Gly
ENST00000440575.6:c.-39-10322A>G	ENSP00000398556.2:n.-39-10322A>G
ENST00000467960.1:n.121A>G
NM_014028.3:c.31A>G	NP_054747.2:p.Arg11Gly
XM_011535775.1:c.31A>G	XP_011534077.1:p.Arg11Gly
XR_942410.1:n.114A>G
XR_942410.3:n.113A>G
NM_014028.4:c.31A>G MANE Select	NP_054747.2:p.Arg11Gly