Canonical Allele Identifier: CA365331522

Gene: OSTM1

Linked Data

• gnomAD v4: 6-108074625-C-A
• MyVariant Identifiers: chr6:g.108395829C>A (hg19) ; chr6:g.108074625C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.108074625C>A , CM000668.2:g.108074625C>A	GRCh38
NC_000006.11:g.108395829C>A , CM000668.1:g.108395829C>A	GRCh37
NC_000006.10:g.108502522C>A	NCBI36
NG_007262.1:g.5113G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467960.2:c.27G>T	ENSP00000514449.1:p.Gln9His
ENST00000492130.2:c.27G>T	ENSP00000514453.1:p.Gln9His
ENST00000699569.1:c.27G>T	ENSP00000514443.1:p.Gln9His
ENST00000699572.1:c.27G>T	ENSP00000514444.1:p.Gln9His
ENST00000699573.1:c.27G>T	ENSP00000514445.1:p.Gln9His
ENST00000699574.1:c.27G>T	ENSP00000514446.1:p.Gln9His
ENST00000699575.1:c.27G>T	ENSP00000514447.1:p.Gln9His
ENST00000699576.1:c.27G>T	ENSP00000514448.1:p.Gln9His
ENST00000699577.1:c.27G>T	ENSP00000514450.1:p.Gln9His
ENST00000699578.1:c.27G>T	ENSP00000514451.1:p.Gln9His
ENST00000699579.1:c.27G>T	ENSP00000514452.1:p.Gln9His
ENST00000699580.1:c.-40+434G>T	ENSP00000514454.1:n.-40+434G>T
ENST00000699581.1:c.-39-10326G>T	ENSP00000514455.1:n.-39-10326G>T
ENST00000699582.1:n.127G>T
ENST00000193322.8:c.27G>T MANE Select	ENSP00000193322.3:p.Gln9His
ENST00000193322.7:c.27G>T	ENSP00000193322.3:p.Gln9His
ENST00000440575.6:c.-39-10326G>T	ENSP00000398556.2:n.-39-10326G>T
ENST00000467960.1:n.117G>T
NM_014028.3:c.27G>T	NP_054747.2:p.Gln9His
XM_011535775.1:c.27G>T	XP_011534077.1:p.Gln9His
XR_942410.1:n.110G>T
XR_942410.3:n.109G>T
NM_014028.4:c.27G>T MANE Select	NP_054747.2:p.Gln9His