Canonical Allele Identifier: CA8064498

Gene: AMFR

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56403040G>A , CM000678.2:g.56403040G>A	GRCh38
NC_000016.9:g.56436952G>A , CM000678.1:g.56436952G>A	GRCh37
NC_000016.8:g.54994453G>A	NCBI36
NG_047034.1:g.27499C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001144.6:c.919C>T MANE Select	NP_001135.3:p.Arg307Cys
ENST00000290649.10:c.919C>T MANE Select	ENSP00000290649.5:p.Arg307Cys
NM_001144.5:c.919C>T	NP_001135.3:p.Arg307Cys
NM_001323511.1:c.634C>T	NP_001310440.1:p.Arg212Cys
NM_001323511.2:c.634C>T	NP_001310440.1:p.Arg212Cys
NM_001323512.1:c.919C>T	NP_001310441.1:p.Arg307Cys
NM_001323512.2:c.919C>T	NP_001310441.1:p.Arg307Cys
ENST00000290649.9:c.919C>T	ENSP00000290649.5:p.Arg307Cys
ENST00000492830.5:c.78C>T	ENSP00000473636.1:p.Asn26=
ENST00000565445.5:c.634C>T	ENSP00000456745.1:p.Arg212Cys
ENST00000567738.1:c.64C>T	ENSP00000456288.1:p.Arg22Cys
XM_005255889.2:c.634C>T	XP_005255946.1:p.Arg212Cys
XM_005255890.2:c.634C>T	XP_005255947.1:p.Arg212Cys
XM_005255890.4:c.634C>T	XP_005255947.1:p.Arg212Cys