Canonical Allele Identifier: CA9322792
Community Standard Title: NM_003721.4(RFXANK):c.529C>G (p.Leu177Val)
Gene: RFXANK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.19198197C>G , CM000681.2:g.19198197C>G GRCh38
NC_000019.9:g.19309006C>G , CM000681.1:g.19309006C>G GRCh37
NC_000019.8:g.19170006C>G NCBI36
NG_007432.1:g.10999C>G , LRG_102:g.10999C>G

Transcript Alleles

HGVS Amino-acid Change
NM_003721.4:c.529C>G MANE Select NP_003712.1:p.Leu177Val
ENST00000303088.9:c.529C>G MANE Select ENSP00000305071.2:p.Leu177Val
NM_001278727.1:c.463C>G NP_001265656.1:p.Leu155Val
NM_001278727.2:c.463C>G NP_001265656.1:p.Leu155Val
NM_001278728.1:c.460C>G NP_001265657.1:p.Leu154Val
NM_001278728.2:c.460C>G NP_001265657.1:p.Leu154Val
NM_001370233.1:c.529C>G NP_001357162.1:p.Leu177Val
NM_001370234.1:c.463C>G NP_001357163.1:p.Leu155Val
NM_001370235.1:c.526C>G NP_001357164.1:p.Leu176Val
NM_001370236.1:c.526C>G NP_001357165.1:p.Leu176Val
NM_001370237.1:c.526C>G NP_001357166.1:p.Leu176Val
NM_001370238.1:c.529C>G NP_001357167.1:p.Leu177Val
NM_003721.3:c.529C>G NP_003712.1:p.Leu177Val
NM_134440.2:c.460C>G NP_604389.1:p.Leu154Val
NM_134440.3:c.460C>G NP_604389.1:p.Leu154Val
ENST00000303088.8:c.529C>G ENSP00000305071.2:p.Leu177Val
ENST00000392324.8:c.460C>G ENSP00000376138.3:p.Leu154Val
ENST00000407360.7:c.529C>G ENSP00000384572.3:p.Leu177Val
ENST00000456252.7:c.463C>G ENSP00000409138.2:p.Leu155Val
ENST00000535017.1:c.358C>G ENSP00000444280.1:p.Leu120Val
ENST00000540981.5:c.463C>G ENSP00000440325.2:p.Leu155Val
ENST00000541873.6:n.722C>G
XM_005260134.3:c.529C>G XP_005260191.1:p.Leu177Val
XM_005260134.5:c.529C>G XP_005260191.1:p.Leu177Val
XM_005260135.2:c.529C>G XP_005260192.1:p.Leu177Val
XM_005260135.3:c.529C>G XP_005260192.1:p.Leu177Val
XM_005260136.3:c.526C>G XP_005260193.1:p.Leu176Val
XM_005260136.5:c.526C>G XP_005260193.1:p.Leu176Val
XM_005260137.3:c.526C>G XP_005260194.1:p.Leu176Val
XM_005260137.4:c.526C>G XP_005260194.1:p.Leu176Val
XM_006722930.2:c.526C>G XP_006722993.1:p.Leu176Val
XM_006722930.4:c.526C>G XP_006722993.1:p.Leu176Val
XM_017027415.1:c.529C>G XP_016882904.1:p.Leu177Val
XM_017027416.1:c.463C>G XP_016882905.1:p.Leu155Val