Canonical Allele Identifier: CA395965685

Gene: AMFR

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56409545A>T , CM000678.2:g.56409545A>T	GRCh38
NC_000016.9:g.56443457A>T , CM000678.1:g.56443457A>T	GRCh37
NC_000016.8:g.55000958A>T	NCBI36
NG_047034.1:g.20994T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001144.6:c.392T>A MANE Select	NP_001135.3:p.Ile131Asn
ENST00000290649.10:c.392T>A MANE Select	ENSP00000290649.5:p.Ile131Asn
NM_001144.5:c.392T>A	NP_001135.3:p.Ile131Asn
NM_001323511.1:c.107T>A	NP_001310440.1:p.Ile36Asn
NM_001323511.2:c.107T>A	NP_001310440.1:p.Ile36Asn
NM_001323512.1:c.392T>A	NP_001310441.1:p.Ile131Asn
NM_001323512.2:c.392T>A	NP_001310441.1:p.Ile131Asn
ENST00000290649.9:c.392T>A	ENSP00000290649.5:p.Ile131Asn
ENST00000563664.1:c.107T>A	ENSP00000455842.1:p.Ile36Asn
ENST00000565445.5:c.107T>A	ENSP00000456745.1:p.Ile36Asn
ENST00000568657.1:n.205T>A
XM_005255889.2:c.107T>A	XP_005255946.1:p.Ile36Asn
XM_005255890.2:c.107T>A	XP_005255947.1:p.Ile36Asn
XM_005255890.4:c.107T>A	XP_005255947.1:p.Ile36Asn