Canonical Allele Identifier: CA119094
Gene: OSMR HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.38923237G>C
GRCh37 chr5:g.38923339G>C
Revel Score:
ENST00000274276 (MANE Select) 0.495
gnomAD v4:
chr5-38923237-G-C
Joint Max Group AF 2.9e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000008252
ClinVar Variation:
7809
dbSNP:
63750560
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.38923237G>C , CM000667.2:g.38923237G>C GRCh38
NC_000005.9:g.38923339G>C , CM000667.1:g.38923339G>C GRCh37
NC_000005.8:g.38959096G>C NCBI36
NG_016236.1:g.82380G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274276.8:c.1853G>C MANE Select ENSP00000274276.3:p.Gly618Ala
ENST00000274276.7:c.1853G>C ENSP00000274276.3:p.Gly618Ala
NM_003999.2:c.1853G>C NP_003990.1:p.Gly618Ala
XM_005248384.1:c.1856G>C XP_005248441.1:p.Gly619Ala
XM_005248385.1:c.1856G>C XP_005248442.1:p.Gly619Ala
XM_011514161.1:c.1856G>C XP_011512463.1:p.Gly619Ala
XR_925661.1:n.2245G>C
NM_001323505.1:c.1853G>C NP_001310434.1:p.Gly618Ala
NM_001323506.1:c.1856G>C NP_001310435.1:p.Gly619Ala
XM_011514161.2:c.1856G>C XP_011512463.1:p.Gly619Ala
XM_017010019.1:c.1853G>C XP_016865508.1:p.Gly618Ala
NM_003999.3:c.1853G>C MANE Select NP_003990.1:p.Gly618Ala
NM_001323505.2:c.1853G>C NP_001310434.1:p.Gly618Ala
NM_001323506.2:c.1856G>C NP_001310435.1:p.Gly619Ala
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