Canonical Allele Identifier: CA8064293

Gene: AMFR

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56364099G>A , CM000678.2:g.56364099G>A	GRCh38
NC_000016.9:g.56398011G>A , CM000678.1:g.56398011G>A	GRCh37
NC_000016.8:g.54955512G>A	NCBI36
NG_047034.1:g.66440C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290649.10:c.1606C>T MANE Select	ENSP00000290649.5:p.Arg536Cys
ENST00000290649.9:c.1606C>T	ENSP00000290649.5:p.Arg536Cys
ENST00000492830.5:c.574C>T	ENSP00000473636.1:p.Arg192Cys
ENST00000563285.1:n.167C>T
ENST00000567738.1:c.847C>T	ENSP00000456288.1:p.Arg283Cys
ENST00000568325.1:n.18C>T
NM_001144.5:c.1606C>T	NP_001135.3:p.Arg536Cys
XM_005255889.2:c.1321C>T	XP_005255946.1:p.Arg441Cys
XM_005255890.2:c.1321C>T	XP_005255947.1:p.Arg441Cys
NM_001323511.1:c.1321C>T	NP_001310440.1:p.Arg441Cys
NM_001323512.1:c.1702C>T	NP_001310441.1:p.Arg568Cys
XM_005255890.4:c.1321C>T	XP_005255947.1:p.Arg441Cys
NM_001144.6:c.1606C>T MANE Select	NP_001135.3:p.Arg536Cys
NM_001323511.2:c.1321C>T	NP_001310440.1:p.Arg441Cys
NM_001323512.2:c.1702C>T	NP_001310441.1:p.Arg568Cys