Canonical Allele Identifier: CA119093
Gene: OSMR HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.38925231T>C
GRCh37 chr5:g.38925333T>C
Revel Score:
ENST00000274276 (MANE Select) 0.345
gnomAD v4:
chr5-38925231-T-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000008251
ClinVar Variation:
7808
dbSNP:
63750567
JSON-LD

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
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