Canonical Allele Identifier: CA395958299

Gene: AMFR

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56385954T>A , CM000678.2:g.56385954T>A	GRCh38
NC_000016.9:g.56419866T>A , CM000678.1:g.56419866T>A	GRCh37
NC_000016.8:g.54977367T>A	NCBI36
NG_047034.1:g.44585A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001144.6:c.1345A>T MANE Select	NP_001135.3:p.Ile449Phe
ENST00000290649.10:c.1345A>T MANE Select	ENSP00000290649.5:p.Ile449Phe
NM_001144.5:c.1345A>T	NP_001135.3:p.Ile449Phe
NM_001323511.1:c.1060A>T	NP_001310440.1:p.Ile354Phe
NM_001323511.2:c.1060A>T	NP_001310440.1:p.Ile354Phe
NM_001323512.1:c.1441A>T	NP_001310441.1:p.Ile481Phe
NM_001323512.2:c.1441A>T	NP_001310441.1:p.Ile481Phe
ENST00000290649.9:c.1345A>T	ENSP00000290649.5:p.Ile449Phe
ENST00000492830.5:c.313A>T	ENSP00000473636.1:p.Ile105Phe
ENST00000566334.1:n.19A>T
ENST00000567738.1:c.586A>T	ENSP00000456288.1:p.Ile196Phe
ENST00000568762.1:n.112A>T
XM_005255889.2:c.1060A>T	XP_005255946.1:p.Ile354Phe
XM_005255890.2:c.1060A>T	XP_005255947.1:p.Ile354Phe
XM_005255890.4:c.1060A>T	XP_005255947.1:p.Ile354Phe