Canonical Allele Identifier: CA2287910
Community Standard Title: NM_000965.5(RARB):c.1316G>C (p.Ser439Thr)
Gene: RARB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.25596585G>C , CM000665.2:g.25596585G>C GRCh38
NC_000003.11:g.25638076G>C , CM000665.1:g.25638076G>C GRCh37
NC_000003.10:g.25613080G>C NCBI36
NG_029013.1:g.173323G>C
NG_029013.3:g.772263G>C
NG_052961.1:g.72788C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000965.5:c.1316G>C MANE Select NP_000956.2:p.Ser439Thr
ENST00000330688.9:c.1316G>C MANE Select ENSP00000332296.4:p.Ser439Thr
NM_000965.4:c.1316G>C NP_000956.2:p.Ser439Thr
NM_001290216.1:c.1337G>C NP_001277145.1:p.Ser446Thr
NM_001290216.2:c.1337G>C NP_001277145.1:p.Ser446Thr
NM_001290216.3:c.1337G>C NP_001277145.1:p.Ser446Thr
NM_001290217.1:c.980G>C NP_001277146.1:p.Ser327Thr
NM_001290217.2:c.980G>C NP_001277146.1:p.Ser327Thr
NM_001290266.1:c.1169G>C NP_001277195.1:p.Ser390Thr
NM_001290266.2:c.1169G>C NP_001277195.1:p.Ser390Thr
NM_001290276.1:c.980G>C NP_001277205.1:p.Ser327Thr
NM_001290276.2:c.980G>C NP_001277205.1:p.Ser327Thr
NM_001290277.1:c.1178G>C NP_001277206.1:p.Ser393Thr
NM_001290300.1:c.1187G>C NP_001277229.1:p.Ser396Thr
NM_001290300.2:c.1187G>C NP_001277229.1:p.Ser396Thr
NM_016152.3:c.980G>C NP_057236.1:p.Ser327Thr
NM_016152.4:c.980G>C NP_057236.1:p.Ser327Thr
NR_110892.1:n.1624G>C
NR_110892.2:n.1624G>C
NR_110893.1:n.1580G>C
NR_110893.2:n.1580G>C
ENST00000330688.8:c.1316G>C ENSP00000332296.4:p.Ser439Thr
ENST00000383772.9:c.1337G>C ENSP00000373282.5:p.Ser446Thr
ENST00000437042.6:c.980G>C ENSP00000398840.2:p.Ser327Thr
ENST00000437042.7:c.980G>C ENSP00000398840.2:p.Ser327Thr
ENST00000458646.1:c.980G>C ENSP00000391391.1:p.Ser327Thr
ENST00000458646.2:c.980G>C ENSP00000391391.1:p.Ser327Thr
ENST00000462272.5:n.1194G>C
ENST00000462272.6:n.1261G>C
ENST00000479097.5:n.1171G>C
ENST00000479097.6:c.*705G>C ENSP00000508755.1:n.*705G>C
ENST00000480001.5:n.1127G>C
ENST00000480001.6:c.*292G>C ENSP00000510647.1:n.*292G>C
ENST00000685523.1:c.*1152G>C ENSP00000508765.1:n.*1152G>C
ENST00000686715.1:c.1337G>C ENSP00000510539.1:p.Ser446Thr
ENST00000687083.1:c.*151G>C ENSP00000509681.1:n.*151G>C
ENST00000687353.1:c.1337G>C ENSP00000508588.1:p.Ser446Thr
ENST00000687676.1:c.1337G>C ENSP00000510313.1:p.Ser446Thr
ENST00000688892.1:c.1337G>C ENSP00000510650.1:p.Ser446Thr
ENST00000689700.1:c.1062G>C ENSP00000510200.1:n.1062G>C
ENST00000690398.1:c.*931G>C ENSP00000510044.1:n.*931G>C
ENST00000691580.1:c.1145G>C
ENST00000691912.1:c.1178G>C ENSP00000510520.1:p.Ser393Thr
ENST00000693261.1:c.980G>C ENSP00000508421.1:p.Ser327Thr
ENST00000693580.1:c.628G>C ENSP00000510405.1:n.628G>C