Canonical Allele Identifier: CA365428073
Gene: RFX6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.117203569C>A (hg19) chr6:g.116882406C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116882406C>A , CM000668.2:g.116882406C>A GRCh38
NC_000006.11:g.117203569C>A , CM000668.1:g.117203569C>A GRCh37
NC_000006.10:g.117310262C>A NCBI36
NG_027699.1:g.10194C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000332958.3:c.544C>A MANE Select ENSP00000332208.2:p.Leu182Ile
ENST00000332958.2:c.544C>A ENSP00000332208.2:p.Leu182Ile
ENST00000487683.5:n.608C>A
NM_173560.3:c.544C>A NP_775831.2:p.Leu182Ile
XM_011535589.1:c.544C>A XP_011533891.1:p.Leu182Ile
XM_017010477.1:c.166C>A XP_016865966.1:p.Leu56Ile
NM_173560.4:c.544C>A MANE Select NP_775831.2:p.Leu182Ile
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