Canonical Allele Identifier: CA365428129
Gene: RFX6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.117203592G>A (hg19) chr6:g.116882429G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116882429G>A , CM000668.2:g.116882429G>A GRCh38
NC_000006.11:g.117203592G>A , CM000668.1:g.117203592G>A GRCh37
NC_000006.10:g.117310285G>A NCBI36
NG_027699.1:g.10217G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000332958.3:c.566+1G>A MANE Select ENSP00000332208.2:n.566+1G>A
ENST00000332958.2:c.566+1G>A ENSP00000332208.2:n.566+1G>A
ENST00000487683.5:n.630+1G>A
NM_173560.3:c.566+1G>A NP_775831.2:n.566+1G>A
XM_011535589.1:c.566+1G>A XP_011533891.1:n.566+1G>A
XM_017010477.1:c.188+1G>A XP_016865966.1:n.188+1G>A
NM_173560.4:c.566+1G>A MANE Select NP_775831.2:n.566+1G>A
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