Canonical Allele Identifier: CA451624774
Gene: RFX6 HGNC NCBI

Linked Data

gnomAD v4: 6-116882381-G-A
MyVariant Identifiers: chr6:g.117203544G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116882381G>A , CM000668.2:g.116882381G>A GRCh38
NC_000006.11:g.117203544G>A , CM000668.1:g.117203544G>A GRCh37
NC_000006.10:g.117310237G>A NCBI36
NG_027699.1:g.10169G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000332958.3:c.519G>A MANE Select ENSP00000332208.2:p.Lys173=
ENST00000332958.2:c.519G>A ENSP00000332208.2:p.Lys173=
ENST00000487683.5:n.583G>A
NM_173560.3:c.519G>A NP_775831.2:p.Lys173=
XM_011535589.1:c.519G>A XP_011533891.1:p.Lys173=
XM_017010477.1:c.141G>A XP_016865966.1:p.Lys47=
NM_173560.4:c.519G>A MANE Select NP_775831.2:p.Lys173=
Search 100 bp 5'
Search 100 bp 3'