Canonical Allele Identifier: CA8064497

Gene: AMFR

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56403030C>T , CM000678.2:g.56403030C>T	GRCh38
NC_000016.9:g.56436942C>T , CM000678.1:g.56436942C>T	GRCh37
NC_000016.8:g.54994443C>T	NCBI36
NG_047034.1:g.27509G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001144.6:c.929G>A MANE Select	NP_001135.3:p.Arg310His
ENST00000290649.10:c.929G>A MANE Select	ENSP00000290649.5:p.Arg310His
NM_001144.5:c.929G>A	NP_001135.3:p.Arg310His
NM_001323511.1:c.644G>A	NP_001310440.1:p.Arg215His
NM_001323511.2:c.644G>A	NP_001310440.1:p.Arg215His
NM_001323512.1:c.929G>A	NP_001310441.1:p.Arg310His
NM_001323512.2:c.929G>A	NP_001310441.1:p.Arg310His
ENST00000290649.9:c.929G>A	ENSP00000290649.5:p.Arg310His
ENST00000492830.5:c.88G>A	ENSP00000473636.1:p.Val30Ile
ENST00000565445.5:c.644G>A	ENSP00000456745.1:p.Arg215His
ENST00000567738.1:c.74G>A	ENSP00000456288.1:p.Arg25His
XM_005255889.2:c.644G>A	XP_005255946.1:p.Arg215His
XM_005255890.2:c.644G>A	XP_005255947.1:p.Arg215His
XM_005255890.4:c.644G>A	XP_005255947.1:p.Arg215His