Canonical Allele Identifier: CA3244069
Community Standard Title: NM_003999.3(OSMR):c.1538G>A (p.Gly513Asp)
Gene: OSMR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.38919015G>A , CM000667.2:g.38919015G>A GRCh38
NC_000005.9:g.38919117G>A , CM000667.1:g.38919117G>A GRCh37
NC_000005.8:g.38954874G>A NCBI36
NG_016236.1:g.78158G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003999.3:c.1538G>A MANE Select NP_003990.1:p.Gly513Asp
ENST00000274276.8:c.1538G>A MANE Select ENSP00000274276.3:p.Gly513Asp
NM_001323505.1:c.1538G>A NP_001310434.1:p.Gly513Asp
NM_001323505.2:c.1538G>A NP_001310434.1:p.Gly513Asp
NM_001323506.1:c.1541G>A NP_001310435.1:p.Gly514Asp
NM_001323506.2:c.1541G>A NP_001310435.1:p.Gly514Asp
NM_001323507.1:c.1538G>A NP_001310436.1:p.Gly513Asp
NM_001323507.2:c.1538G>A NP_001310436.1:p.Gly513Asp
NM_003999.2:c.1538G>A NP_003990.1:p.Gly513Asp
ENST00000274276.7:c.1538G>A ENSP00000274276.3:p.Gly513Asp
ENST00000513831.1:c.359G>A ENSP00000423913.1:p.Gly120Asp
XM_005248384.1:c.1541G>A XP_005248441.1:p.Gly514Asp
XM_005248385.1:c.1541G>A XP_005248442.1:p.Gly514Asp
XM_005248386.2:c.1541G>A XP_005248443.1:p.Gly514Asp
XM_005248387.2:c.1538G>A XP_005248444.1:p.Gly513Asp
XM_011514161.1:c.1541G>A XP_011512463.1:p.Gly514Asp
XM_011514161.2:c.1541G>A XP_011512463.1:p.Gly514Asp
XM_017010019.1:c.1538G>A XP_016865508.1:p.Gly513Asp
XR_925661.1:n.1930G>A