Canonical Allele Identifier: CA395962233

Gene: AMFR

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56403082C>T , CM000678.2:g.56403082C>T	GRCh38
NC_000016.9:g.56436994C>T , CM000678.1:g.56436994C>T	GRCh37
NC_000016.8:g.54994495C>T	NCBI36
NG_047034.1:g.27457G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290649.10:c.877G>A MANE Select	ENSP00000290649.5:p.Val293Ile
ENST00000290649.9:c.877G>A	ENSP00000290649.5:p.Val293Ile
ENST00000492830.5:c.36G>A	ENSP00000473636.1:p.Trp12Ter
ENST00000565445.5:c.592G>A	ENSP00000456745.1:p.Val198Ile
ENST00000567738.1:c.22G>A	ENSP00000456288.1:p.Val8Ile
NM_001144.5:c.877G>A	NP_001135.3:p.Val293Ile
XM_005255889.2:c.592G>A	XP_005255946.1:p.Val198Ile
XM_005255890.2:c.592G>A	XP_005255947.1:p.Val198Ile
NM_001323511.1:c.592G>A	NP_001310440.1:p.Val198Ile
NM_001323512.1:c.877G>A	NP_001310441.1:p.Val293Ile
XM_005255890.4:c.592G>A	XP_005255947.1:p.Val198Ile
NM_001144.6:c.877G>A MANE Select	NP_001135.3:p.Val293Ile
NM_001323511.2:c.592G>A	NP_001310440.1:p.Val198Ile
NM_001323512.2:c.877G>A	NP_001310441.1:p.Val293Ile