Canonical Allele Identifier: CA118365
Gene: RFXANK HGNC NCBI

Linked Data

ClinVar Variation Id: 6600
ClinVar RCV Id: RCV000006979 RCV000788451 RCV000985115
dbSNP Id: rs104894709
MyVariant Identifiers: chr19:g.19308354A>T (hg19) chr19:g.19197545A>T (hg38)
PubMed: PMID:12618906
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.19197545A>T , CM000681.2:g.19197545A>T GRCh38
NC_000019.9:g.19308354A>T , CM000681.1:g.19308354A>T GRCh37
NC_000019.8:g.19169354A>T NCBI36
NG_007432.1:g.10347A>T , LRG_102:g.10347A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000303088.9:c.362A>T MANE Select ENSP00000305071.2:p.Asp121Val
ENST00000303088.8:c.362A>T ENSP00000305071.2:p.Asp121Val
ENST00000392324.8:c.293A>T ENSP00000376138.3:p.Asp98Val
ENST00000407360.7:c.362A>T ENSP00000384572.3:p.Asp121Val
ENST00000456252.7:c.296A>T ENSP00000409138.2:p.Asp99Val
ENST00000535017.1:c.191A>T ENSP00000444280.1:p.Asp64Val
ENST00000540981.5:c.296A>T ENSP00000440325.2:p.Asp99Val
ENST00000541873.6:n.555A>T
ENST00000543118.1:n.291A>T
ENST00000545522.2:n.770A>T
ENST00000593273.5:c.359A>T ENSP00000466913.1:p.Asp120Val
NM_001278727.1:c.296A>T NP_001265656.1:p.Asp99Val
NM_001278728.1:c.293A>T NP_001265657.1:p.Asp98Val
NM_003721.3:c.362A>T NP_003712.1:p.Asp121Val
NM_134440.2:c.293A>T NP_604389.1:p.Asp98Val
XM_005260134.3:c.362A>T XP_005260191.1:p.Asp121Val
XM_005260135.2:c.362A>T XP_005260192.1:p.Asp121Val
XM_005260136.3:c.359A>T XP_005260193.1:p.Asp120Val
XM_005260137.3:c.359A>T XP_005260194.1:p.Asp120Val
XM_006722930.2:c.359A>T XP_006722993.1:p.Asp120Val
XM_005260134.5:c.362A>T XP_005260191.1:p.Asp121Val
XM_005260135.3:c.362A>T XP_005260192.1:p.Asp121Val
XM_005260136.5:c.359A>T XP_005260193.1:p.Asp120Val
XM_005260137.4:c.359A>T XP_005260194.1:p.Asp120Val
XM_006722930.4:c.359A>T XP_006722993.1:p.Asp120Val
XM_017027415.1:c.362A>T XP_016882904.1:p.Asp121Val
XM_017027416.1:c.296A>T XP_016882905.1:p.Asp99Val
NM_003721.4:c.362A>T MANE Select NP_003712.1:p.Asp121Val
NM_001370233.1:c.362A>T NP_001357162.1:p.Asp121Val
NM_001370234.1:c.296A>T NP_001357163.1:p.Asp99Val
NM_001370235.1:c.359A>T NP_001357164.1:p.Asp120Val
NM_001370236.1:c.359A>T NP_001357165.1:p.Asp120Val
NM_001370237.1:c.359A>T NP_001357166.1:p.Asp120Val
NM_001370238.1:c.362A>T NP_001357167.1:p.Asp121Val
NM_001278727.2:c.296A>T NP_001265656.1:p.Asp99Val
NM_001278728.2:c.293A>T NP_001265657.1:p.Asp98Val
NM_134440.3:c.293A>T NP_604389.1:p.Asp98Val
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