Canonical Allele Identifier: CA395957306

Gene: AMFR

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56369318T>A , CM000678.2:g.56369318T>A	GRCh38
NC_000016.9:g.56403230T>A , CM000678.1:g.56403230T>A	GRCh37
NC_000016.8:g.54960731T>A	NCBI36
NG_047034.1:g.61221A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001144.6:c.1390A>T MANE Select	NP_001135.3:p.Ile464Phe
ENST00000290649.10:c.1390A>T MANE Select	ENSP00000290649.5:p.Ile464Phe
NM_001144.5:c.1390A>T	NP_001135.3:p.Ile464Phe
NM_001323511.1:c.1105A>T	NP_001310440.1:p.Ile369Phe
NM_001323511.2:c.1105A>T	NP_001310440.1:p.Ile369Phe
NM_001323512.1:c.1486A>T	NP_001310441.1:p.Ile496Phe
NM_001323512.2:c.1486A>T	NP_001310441.1:p.Ile496Phe
ENST00000290649.9:c.1390A>T	ENSP00000290649.5:p.Ile464Phe
ENST00000492830.5:c.358A>T	ENSP00000473636.1:p.Ile120Phe
ENST00000566334.1:n.64A>T
ENST00000567738.1:c.631A>T	ENSP00000456288.1:p.Ile211Phe
XM_005255889.2:c.1105A>T	XP_005255946.1:p.Ile369Phe
XM_005255890.2:c.1105A>T	XP_005255947.1:p.Ile369Phe
XM_005255890.4:c.1105A>T	XP_005255947.1:p.Ile369Phe