Canonical Allele Identifier: CA2451186

Gene: RFT1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53092544C>T , CM000665.2:g.53092544C>T	GRCh38
NC_000003.11:g.53126560C>T , CM000665.1:g.53126560C>T	GRCh37
NC_000003.10:g.53101600C>T	NCBI36
NG_009203.1:g.42911G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296292.8:c.1283G>A MANE Select	ENSP00000296292.3:p.Ser428Asn
ENST00000296292.7:c.1283G>A	ENSP00000296292.3:p.Ser428Asn
ENST00000394738.7:c.1166G>A	ENSP00000378223.3:p.Ser389Asn
ENST00000607203.1:c.74-6692G>A
ENST00000607283.5:c.148G>A
ENST00000607495.5:c.73+6837G>A
NM_052859.3:c.1283G>A	NP_443091.1:p.Ser428Asn
XM_006713384.2:c.1209-6692G>A	XP_006713447.1:n.1209-6692G>A
XM_011534214.1:c.1208+6837G>A	XP_011532516.1:n.1208+6837G>A
XM_011534215.1:c.1208+6837G>A	XP_011532517.1:n.1208+6837G>A
XM_011534216.1:c.626G>A	XP_011532518.1:p.Ser209Asn
XR_940507.1:n.1268-6692G>A
XM_006713384.3:c.1209-6692G>A	XP_006713447.1:n.1209-6692G>A
XM_011534214.2:c.1208+6837G>A	XP_011532516.1:n.1208+6837G>A
XM_011534215.3:c.1208+6837G>A	XP_011532517.1:n.1208+6837G>A
XM_011534216.3:c.626G>A	XP_011532518.1:p.Ser209Asn
XM_017007460.1:c.1283G>A	XP_016862949.1:p.Ser428Asn
XM_017007461.2:c.626G>A	XP_016862950.1:p.Ser209Asn
XR_001740360.2:n.1243G>A
NM_052859.4:c.1283G>A MANE Select	NP_443091.1:p.Ser428Asn