Canonical Allele Identifier: CA119093

Gene: OSMR

Linked Data

• ClinVar Variation Id: 7808
• ClinVar RCV Id: RCV000008251
• dbSNP Id: rs63750567
• gnomAD v4: 5-38925231-T-C
• MyVariant Identifiers: chr5:g.38925333T>C (hg19) ; chr5:g.38925231T>C (hg38)
• PubMed: PMID:18179886

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38925231T>C , CM000667.2:g.38925231T>C	GRCh38
NC_000005.9:g.38925333T>C , CM000667.1:g.38925333T>C	GRCh37
NC_000005.8:g.38961090T>C	NCBI36
NG_016236.1:g.84374T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274276.8:c.2072T>C MANE Select	ENSP00000274276.3:p.Ile691Thr
ENST00000274276.7:c.2072T>C	ENSP00000274276.3:p.Ile691Thr
NM_003999.2:c.2072T>C	NP_003990.1:p.Ile691Thr
XM_005248384.1:c.2075T>C	XP_005248441.1:p.Ile692Thr
XM_005248385.1:c.2075T>C	XP_005248442.1:p.Ile692Thr
XM_011514161.1:c.2075T>C	XP_011512463.1:p.Ile692Thr
XR_925661.1:n.2464T>C
NM_001323505.1:c.2072T>C	NP_001310434.1:p.Ile691Thr
NM_001323506.1:c.2075T>C	NP_001310435.1:p.Ile692Thr
XM_011514161.2:c.2075T>C	XP_011512463.1:p.Ile692Thr
XM_017010019.1:c.2072T>C	XP_016865508.1:p.Ile691Thr
NM_003999.3:c.2072T>C MANE Select	NP_003990.1:p.Ile691Thr
NM_001323505.2:c.2072T>C	NP_001310434.1:p.Ile691Thr
NM_001323506.2:c.2075T>C	NP_001310435.1:p.Ile692Thr