Canonical Allele Identifier: CA365428022
Gene: RFX6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116882386C>G , CM000668.2:g.116882386C>G GRCh38
NC_000006.11:g.117203549C>G , CM000668.1:g.117203549C>G GRCh37
NC_000006.10:g.117310242C>G NCBI36
NG_027699.1:g.10174C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000332958.3:c.524C>G MANE Select ENSP00000332208.2:p.Pro175Arg
ENST00000332958.2:c.524C>G ENSP00000332208.2:p.Pro175Arg
ENST00000487683.5:n.588C>G
NM_173560.3:c.524C>G NP_775831.2:p.Pro175Arg
XM_011535589.1:c.524C>G XP_011533891.1:p.Pro175Arg
XM_017010477.1:c.146C>G XP_016865966.1:p.Pro49Arg
NM_173560.4:c.524C>G MANE Select NP_775831.2:p.Pro175Arg