Canonical Allele Identifier: CA2451425

Gene: RFT1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53121704C>T , CM000665.2:g.53121704C>T	GRCh38
NC_000003.11:g.53155720C>T , CM000665.1:g.53155720C>T	GRCh37
NC_000003.10:g.53130760C>T	NCBI36
NG_009203.1:g.13751G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296292.8:c.553G>A MANE Select	ENSP00000296292.3:p.Ala185Thr
ENST00000296292.7:c.553G>A	ENSP00000296292.3:p.Ala185Thr
ENST00000394738.7:c.436G>A	ENSP00000378223.3:p.Ala146Thr
ENST00000467048.1:c.553G>A	ENSP00000420325.1:p.Ala185Thr
NM_052859.3:c.553G>A	NP_443091.1:p.Ala185Thr
XM_005265537.3:c.553G>A	XP_005265594.1:p.Ala185Thr
XM_006713384.2:c.553G>A	XP_006713447.1:p.Ala185Thr
XM_011534214.1:c.553G>A	XP_011532516.1:p.Ala185Thr
XM_011534215.1:c.553G>A	XP_011532517.1:p.Ala185Thr
XR_940507.1:n.612G>A
XM_005265537.4:c.553G>A	XP_005265594.1:p.Ala185Thr
XM_006713384.3:c.553G>A	XP_006713447.1:p.Ala185Thr
XM_011534214.2:c.553G>A	XP_011532516.1:p.Ala185Thr
XM_011534215.3:c.553G>A	XP_011532517.1:p.Ala185Thr
XM_011534216.3:c.-288G>A	XP_011532518.1:n.-288G>A
XM_017007460.1:c.553G>A	XP_016862949.1:p.Ala185Thr
XM_017007461.2:c.-288G>A	XP_016862950.1:n.-288G>A
XR_001740360.2:n.619G>A
NM_052859.4:c.553G>A MANE Select	NP_443091.1:p.Ala185Thr