Canonical Allele Identifier: CA413475376
Community Standard Title: NM_004312.3(ARR3):c.239T>C (p.Leu80Pro)
Gene: ARR3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70276175T>C , CM000685.2:g.70276175T>C GRCh38
NC_000023.10:g.69496025T>C , CM000685.1:g.69496025T>C GRCh37
NC_000023.9:g.69412750T>C NCBI36
NG_050734.1:g.17673T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004312.3:c.239T>C MANE Select NP_004303.2:p.Leu80Pro
ENST00000307959.9:c.239T>C MANE Select ENSP00000311538.8:p.Leu80Pro
NM_004312.2:c.239T>C NP_004303.2:p.Leu80Pro
ENST00000307959.8:c.239T>C ENSP00000311538.8:p.Leu80Pro
ENST00000374495.7:c.239T>C ENSP00000363619.3:p.Leu80Pro
ENST00000480877.6:c.86T>C ENSP00000425505.1:p.Leu29Pro
ENST00000620997.4:c.239T>C ENSP00000480426.1:p.Leu80Pro
XM_011530956.1:c.353T>C XP_011529258.1:p.Leu118Pro
XM_017029518.1:c.284T>C XP_016885007.1:p.Leu95Pro
XR_938428.1:n.503+4575A>G
XR_938429.1:n.503+4575A>G