Canonical Allele Identifier: CA365331279

Gene: OSTM1

Linked Data

• gnomAD v4: 6-108074523-G-T
• MyVariant Identifiers: chr6:g.108395727G>T (hg19) ; chr6:g.108074523G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.108074523G>T , CM000668.2:g.108074523G>T	GRCh38
NC_000006.11:g.108395727G>T , CM000668.1:g.108395727G>T	GRCh37
NC_000006.10:g.108502420G>T	NCBI36
NG_007262.1:g.5215C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000467960.2:c.129C>A	ENSP00000514449.1:p.Phe43Leu
ENST00000492130.2:c.129C>A	ENSP00000514453.1:p.Phe43Leu
ENST00000699569.1:c.129C>A	ENSP00000514443.1:p.Phe43Leu
ENST00000699572.1:c.129C>A	ENSP00000514444.1:p.Phe43Leu
ENST00000699573.1:c.129C>A	ENSP00000514445.1:p.Phe43Leu
ENST00000699574.1:c.129C>A	ENSP00000514446.1:p.Phe43Leu
ENST00000699575.1:c.129C>A	ENSP00000514447.1:p.Phe43Leu
ENST00000699576.1:c.129C>A	ENSP00000514448.1:p.Phe43Leu
ENST00000699577.1:c.129C>A	ENSP00000514450.1:p.Phe43Leu
ENST00000699578.1:c.129C>A	ENSP00000514451.1:p.Phe43Leu
ENST00000699579.1:c.129C>A	ENSP00000514452.1:p.Phe43Leu
ENST00000699580.1:c.-40+536C>A	ENSP00000514454.1:n.-40+536C>A
ENST00000699581.1:c.-39-10224C>A	ENSP00000514455.1:n.-39-10224C>A
ENST00000699582.1:n.229C>A
ENST00000193322.8:c.129C>A MANE Select	ENSP00000193322.3:p.Phe43Leu
ENST00000193322.7:c.129C>A	ENSP00000193322.3:p.Phe43Leu
ENST00000440575.6:c.-39-10224C>A	ENSP00000398556.2:n.-39-10224C>A
ENST00000467960.1:n.219C>A
NM_014028.3:c.129C>A	NP_054747.2:p.Phe43Leu
XM_011535775.1:c.129C>A	XP_011534077.1:p.Phe43Leu
XR_942410.1:n.212C>A
XR_942410.3:n.211C>A
NM_014028.4:c.129C>A MANE Select	NP_054747.2:p.Phe43Leu