Canonical Allele Identifier: CA451624778

Gene: RFX6

Linked Data

• MyVariant Identifiers: chr6:g.117203550C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116882387C>G , CM000668.2:g.116882387C>G	GRCh38
NC_000006.11:g.117203550C>G , CM000668.1:g.117203550C>G	GRCh37
NC_000006.10:g.117310243C>G	NCBI36
NG_027699.1:g.10175C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332958.3:c.525C>G MANE Select	ENSP00000332208.2:p.Pro175=
ENST00000332958.2:c.525C>G	ENSP00000332208.2:p.Pro175=
ENST00000487683.5:n.589C>G
NM_173560.3:c.525C>G	NP_775831.2:p.Pro175=
XM_011535589.1:c.525C>G	XP_011533891.1:p.Pro175=
XM_017010477.1:c.147C>G	XP_016865966.1:p.Pro49=
NM_173560.4:c.525C>G MANE Select	NP_775831.2:p.Pro175=