Canonical Allele Identifier: CA451813785
Gene: OSTM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.108395820A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.108074616A>G , CM000668.2:g.108074616A>G GRCh38
NC_000006.11:g.108395820A>G , CM000668.1:g.108395820A>G GRCh37
NC_000006.10:g.108502513A>G NCBI36
NG_007262.1:g.5122T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000467960.2:c.36T>C ENSP00000514449.1:p.Cys12=
ENST00000492130.2:c.36T>C ENSP00000514453.1:p.Cys12=
ENST00000699569.1:c.36T>C ENSP00000514443.1:p.Cys12=
ENST00000699572.1:c.36T>C ENSP00000514444.1:p.Cys12=
ENST00000699573.1:c.36T>C ENSP00000514445.1:p.Cys12=
ENST00000699574.1:c.36T>C ENSP00000514446.1:p.Cys12=
ENST00000699575.1:c.36T>C ENSP00000514447.1:p.Cys12=
ENST00000699576.1:c.36T>C ENSP00000514448.1:p.Cys12=
ENST00000699577.1:c.36T>C ENSP00000514450.1:p.Cys12=
ENST00000699578.1:c.36T>C ENSP00000514451.1:p.Cys12=
ENST00000699579.1:c.36T>C ENSP00000514452.1:p.Cys12=
ENST00000699580.1:c.-40+443T>C ENSP00000514454.1:n.-40+443T>C
ENST00000699581.1:c.-39-10317T>C ENSP00000514455.1:n.-39-10317T>C
ENST00000699582.1:n.136T>C
ENST00000193322.8:c.36T>C MANE Select ENSP00000193322.3:p.Cys12=
ENST00000193322.7:c.36T>C ENSP00000193322.3:p.Cys12=
ENST00000440575.6:c.-39-10317T>C ENSP00000398556.2:n.-39-10317T>C
ENST00000467960.1:n.126T>C
NM_014028.3:c.36T>C NP_054747.2:p.Cys12=
XM_011535775.1:c.36T>C XP_011534077.1:p.Cys12=
XR_942410.1:n.119T>C
XR_942410.3:n.118T>C
NM_014028.4:c.36T>C MANE Select NP_054747.2:p.Cys12=