Canonical Allele Identifier: CA8064419

Gene: AMFR

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56389220C>T , CM000678.2:g.56389220C>T	GRCh38
NC_000016.9:g.56423132C>T , CM000678.1:g.56423132C>T	GRCh37
NC_000016.8:g.54980633C>T	NCBI36
NG_047034.1:g.41319G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290649.10:c.1241G>A MANE Select	ENSP00000290649.5:p.Arg414His
ENST00000290649.9:c.1241G>A	ENSP00000290649.5:p.Arg414His
ENST00000492830.5:c.245-3198G>A	ENSP00000473636.1:n.245-3198G>A
ENST00000567738.1:c.386G>A	ENSP00000456288.1:p.Arg129His
ENST00000568762.1:n.44-3198G>A
NM_001144.5:c.1241G>A	NP_001135.3:p.Arg414His
XM_005255889.2:c.956G>A	XP_005255946.1:p.Arg319His
XM_005255890.2:c.956G>A	XP_005255947.1:p.Arg319His
NM_001323511.1:c.956G>A	NP_001310440.1:p.Arg319His
NM_001323512.1:c.1241G>A	NP_001310441.1:p.Arg414His
XM_005255890.4:c.956G>A	XP_005255947.1:p.Arg319His
NM_001144.6:c.1241G>A MANE Select	NP_001135.3:p.Arg414His
NM_001323511.2:c.956G>A	NP_001310440.1:p.Arg319His
NM_001323512.2:c.1241G>A	NP_001310441.1:p.Arg414His