Canonical Allele Identifier: CA451624794
Gene: RFX6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.117203568G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116882405G>C , CM000668.2:g.116882405G>C GRCh38
NC_000006.11:g.117203568G>C , CM000668.1:g.117203568G>C GRCh37
NC_000006.10:g.117310261G>C NCBI36
NG_027699.1:g.10193G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000332958.3:c.543G>C MANE Select ENSP00000332208.2:p.Arg181=
ENST00000332958.2:c.543G>C ENSP00000332208.2:p.Arg181=
ENST00000487683.5:n.607G>C
NM_173560.3:c.543G>C NP_775831.2:p.Arg181=
XM_011535589.1:c.543G>C XP_011533891.1:p.Arg181=
XM_017010477.1:c.165G>C XP_016865966.1:p.Arg55=
NM_173560.4:c.543G>C MANE Select NP_775831.2:p.Arg181=