Canonical Allele Identifier: CA9322824
Community Standard Title: NM_003721.4(RFXANK):c.584T>C (p.Leu195Pro)
Gene: RFXANK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.19198676T>C , CM000681.2:g.19198676T>C GRCh38
NC_000019.9:g.19309485T>C , CM000681.1:g.19309485T>C GRCh37
NC_000019.8:g.19170485T>C NCBI36
NG_007432.1:g.11478T>C , LRG_102:g.11478T>C

Transcript Alleles

HGVS Amino-acid Change
NM_003721.4:c.584T>C MANE Select NP_003712.1:p.Leu195Pro
ENST00000303088.9:c.584T>C MANE Select ENSP00000305071.2:p.Leu195Pro
NM_001278727.1:c.518T>C NP_001265656.1:p.Leu173Pro
NM_001278727.2:c.518T>C NP_001265656.1:p.Leu173Pro
NM_001278728.1:c.515T>C NP_001265657.1:p.Leu172Pro
NM_001278728.2:c.515T>C NP_001265657.1:p.Leu172Pro
NM_001370233.1:c.584T>C NP_001357162.1:p.Leu195Pro
NM_001370234.1:c.518T>C NP_001357163.1:p.Leu173Pro
NM_001370235.1:c.581T>C NP_001357164.1:p.Leu194Pro
NM_001370236.1:c.581T>C NP_001357165.1:p.Leu194Pro
NM_001370237.1:c.581T>C NP_001357166.1:p.Leu194Pro
NM_001370238.1:c.584T>C NP_001357167.1:p.Leu195Pro
NM_003721.3:c.584T>C NP_003712.1:p.Leu195Pro
NM_134440.2:c.515T>C NP_604389.1:p.Leu172Pro
NM_134440.3:c.515T>C NP_604389.1:p.Leu172Pro
ENST00000303088.8:c.584T>C ENSP00000305071.2:p.Leu195Pro
ENST00000392324.8:c.515T>C ENSP00000376138.3:p.Leu172Pro
ENST00000407360.7:c.584T>C ENSP00000384572.3:p.Leu195Pro
ENST00000456252.7:c.518T>C ENSP00000409138.2:p.Leu173Pro
ENST00000535017.1:c.413T>C ENSP00000444280.1:p.Leu138Pro
ENST00000540977.1:n.40T>C
ENST00000540981.5:c.518T>C ENSP00000440325.2:p.Leu173Pro
ENST00000541873.6:n.777T>C
XM_005260134.3:c.584T>C XP_005260191.1:p.Leu195Pro
XM_005260134.5:c.584T>C XP_005260191.1:p.Leu195Pro
XM_005260135.2:c.584T>C XP_005260192.1:p.Leu195Pro
XM_005260135.3:c.584T>C XP_005260192.1:p.Leu195Pro
XM_005260136.3:c.581T>C XP_005260193.1:p.Leu194Pro
XM_005260136.5:c.581T>C XP_005260193.1:p.Leu194Pro
XM_005260137.3:c.581T>C XP_005260194.1:p.Leu194Pro
XM_005260137.4:c.581T>C XP_005260194.1:p.Leu194Pro
XM_006722930.2:c.581T>C XP_006722993.1:p.Leu194Pro
XM_006722930.4:c.581T>C XP_006722993.1:p.Leu194Pro
XM_017027415.1:c.584T>C XP_016882904.1:p.Leu195Pro
XM_017027416.1:c.518T>C XP_016882905.1:p.Leu173Pro