Canonical Allele Identifier: CA365331504
Gene: OSTM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.108074619C>A , CM000668.2:g.108074619C>A GRCh38
NC_000006.11:g.108395823C>A , CM000668.1:g.108395823C>A GRCh37
NC_000006.10:g.108502516C>A NCBI36
NG_007262.1:g.5119G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000467960.2:c.33G>T ENSP00000514449.1:p.Arg11Ser
ENST00000492130.2:c.33G>T ENSP00000514453.1:p.Arg11Ser
ENST00000699569.1:c.33G>T ENSP00000514443.1:p.Arg11Ser
ENST00000699572.1:c.33G>T ENSP00000514444.1:p.Arg11Ser
ENST00000699573.1:c.33G>T ENSP00000514445.1:p.Arg11Ser
ENST00000699574.1:c.33G>T ENSP00000514446.1:p.Arg11Ser
ENST00000699575.1:c.33G>T ENSP00000514447.1:p.Arg11Ser
ENST00000699576.1:c.33G>T ENSP00000514448.1:p.Arg11Ser
ENST00000699577.1:c.33G>T ENSP00000514450.1:p.Arg11Ser
ENST00000699578.1:c.33G>T ENSP00000514451.1:p.Arg11Ser
ENST00000699579.1:c.33G>T ENSP00000514452.1:p.Arg11Ser
ENST00000699580.1:c.-40+440G>T ENSP00000514454.1:n.-40+440G>T
ENST00000699581.1:c.-39-10320G>T ENSP00000514455.1:n.-39-10320G>T
ENST00000699582.1:n.133G>T
ENST00000193322.8:c.33G>T MANE Select ENSP00000193322.3:p.Arg11Ser
ENST00000193322.7:c.33G>T ENSP00000193322.3:p.Arg11Ser
ENST00000440575.6:c.-39-10320G>T ENSP00000398556.2:n.-39-10320G>T
ENST00000467960.1:n.123G>T
NM_014028.3:c.33G>T NP_054747.2:p.Arg11Ser
XM_011535775.1:c.33G>T XP_011534077.1:p.Arg11Ser
XR_942410.1:n.116G>T
XR_942410.3:n.115G>T
NM_014028.4:c.33G>T MANE Select NP_054747.2:p.Arg11Ser