Canonical Allele Identifier: CA395960971

Gene: AMFR

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56401840A>C , CM000678.2:g.56401840A>C	GRCh38
NC_000016.9:g.56435752A>C , CM000678.1:g.56435752A>C	GRCh37
NC_000016.8:g.54993253A>C	NCBI36
NG_047034.1:g.28699T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001144.6:c.978T>G MANE Select	NP_001135.3:p.Phe326Leu
ENST00000290649.10:c.978T>G MANE Select	ENSP00000290649.5:p.Phe326Leu
NM_001144.5:c.978T>G	NP_001135.3:p.Phe326Leu
NM_001323511.1:c.693T>G	NP_001310440.1:p.Phe231Leu
NM_001323511.2:c.693T>G	NP_001310440.1:p.Phe231Leu
NM_001323512.1:c.978T>G	NP_001310441.1:p.Phe326Leu
NM_001323512.2:c.978T>G	NP_001310441.1:p.Phe326Leu
ENST00000290649.9:c.978T>G	ENSP00000290649.5:p.Phe326Leu
ENST00000492830.5:c.137T>G	ENSP00000473636.1:p.Leu46Trp
ENST00000567738.1:c.123T>G	ENSP00000456288.1:p.Phe41Leu
XM_005255889.2:c.693T>G	XP_005255946.1:p.Phe231Leu
XM_005255890.2:c.693T>G	XP_005255947.1:p.Phe231Leu
XM_005255890.4:c.693T>G	XP_005255947.1:p.Phe231Leu