Canonical Allele Identifier: CA451813837
Gene: OSTM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.108395832C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.108074628C>G , CM000668.2:g.108074628C>G GRCh38
NC_000006.11:g.108395832C>G , CM000668.1:g.108395832C>G GRCh37
NC_000006.10:g.108502525C>G NCBI36
NG_007262.1:g.5110G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000467960.2:c.24G>C ENSP00000514449.1:p.Ala8=
ENST00000492130.2:c.24G>C ENSP00000514453.1:p.Ala8=
ENST00000699569.1:c.24G>C ENSP00000514443.1:p.Ala8=
ENST00000699572.1:c.24G>C ENSP00000514444.1:p.Ala8=
ENST00000699573.1:c.24G>C ENSP00000514445.1:p.Ala8=
ENST00000699574.1:c.24G>C ENSP00000514446.1:p.Ala8=
ENST00000699575.1:c.24G>C ENSP00000514447.1:p.Ala8=
ENST00000699576.1:c.24G>C ENSP00000514448.1:p.Ala8=
ENST00000699577.1:c.24G>C ENSP00000514450.1:p.Ala8=
ENST00000699578.1:c.24G>C ENSP00000514451.1:p.Ala8=
ENST00000699579.1:c.24G>C ENSP00000514452.1:p.Ala8=
ENST00000699580.1:c.-40+431G>C ENSP00000514454.1:n.-40+431G>C
ENST00000699581.1:c.-39-10329G>C ENSP00000514455.1:n.-39-10329G>C
ENST00000699582.1:n.124G>C
ENST00000193322.8:c.24G>C MANE Select ENSP00000193322.3:p.Ala8=
ENST00000193322.7:c.24G>C ENSP00000193322.3:p.Ala8=
ENST00000440575.6:c.-39-10329G>C ENSP00000398556.2:n.-39-10329G>C
ENST00000467960.1:n.114G>C
NM_014028.3:c.24G>C NP_054747.2:p.Ala8=
XM_011535775.1:c.24G>C XP_011534077.1:p.Ala8=
XR_942410.1:n.107G>C
XR_942410.3:n.106G>C
NM_014028.4:c.24G>C MANE Select NP_054747.2:p.Ala8=