Canonical Allele Identifier: CA2990531079
Community Standard Title: NM_052859.4(RFT1):c.827-15T>C
Gene: RFT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53105818A>G , CM000665.2:g.53105818A>G GRCh38
NC_000003.11:g.53139834A>G , CM000665.1:g.53139834A>G GRCh37
NC_000003.10:g.53114874A>G NCBI36
NG_009203.1:g.29637T>C

Transcript Alleles

HGVS Amino-acid Change
NM_052859.4:c.827-15T>C MANE Select NP_443091.1:n.827-15T>C
ENST00000296292.8:c.827-15T>C MANE Select ENSP00000296292.3:n.827-15T>C
NM_052859.3:c.827-15T>C NP_443091.1:n.827-15T>C
ENST00000296292.7:c.827-15T>C ENSP00000296292.3:n.827-15T>C
ENST00000394738.7:c.710-15T>C ENSP00000378223.3:n.710-15T>C
ENST00000467048.1:c.689-15T>C ENSP00000420325.1:n.689-15T>C
ENST00000471158.1:n.269-15T>C
XM_005265537.3:c.827-15T>C XP_005265594.1:n.827-15T>C
XM_005265537.4:c.827-15T>C XP_005265594.1:n.827-15T>C
XM_006713384.2:c.827-15T>C XP_006713447.1:n.827-15T>C
XM_006713384.3:c.827-15T>C XP_006713447.1:n.827-15T>C
XM_011534214.1:c.827-15T>C XP_011532516.1:n.827-15T>C
XM_011534214.2:c.827-15T>C XP_011532516.1:n.827-15T>C
XM_011534215.1:c.827-15T>C XP_011532517.1:n.827-15T>C
XM_011534215.3:c.827-15T>C XP_011532517.1:n.827-15T>C
XM_011534216.1:c.170-15T>C XP_011532518.1:n.170-15T>C
XM_011534216.3:c.170-15T>C XP_011532518.1:n.170-15T>C
XM_017007460.1:c.827-15T>C XP_016862949.1:n.827-15T>C
XM_017007461.2:c.170-15T>C XP_016862950.1:n.170-15T>C
XR_001740360.2:n.893-15T>C
XR_940507.1:n.886-15T>C