Canonical Allele Identifier: CA395963152

Gene: AMFR

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56405220C>A , CM000678.2:g.56405220C>A	GRCh38
NC_000016.9:g.56439132C>A , CM000678.1:g.56439132C>A	GRCh37
NC_000016.8:g.54996633C>A	NCBI36
NG_047034.1:g.25319G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290649.10:c.691G>T MANE Select	ENSP00000290649.5:p.Ala231Ser
ENST00000290649.9:c.691G>T	ENSP00000290649.5:p.Ala231Ser
ENST00000563664.1:c.406G>T	ENSP00000455842.1:p.Ala136Ser
ENST00000565445.5:c.406G>T	ENSP00000456745.1:p.Ala136Ser
NM_001144.5:c.691G>T	NP_001135.3:p.Ala231Ser
XM_005255889.2:c.406G>T	XP_005255946.1:p.Ala136Ser
XM_005255890.2:c.406G>T	XP_005255947.1:p.Ala136Ser
NM_001323511.1:c.406G>T	NP_001310440.1:p.Ala136Ser
NM_001323512.1:c.691G>T	NP_001310441.1:p.Ala231Ser
XM_005255890.4:c.406G>T	XP_005255947.1:p.Ala136Ser
NM_001144.6:c.691G>T MANE Select	NP_001135.3:p.Ala231Ser
NM_001323511.2:c.406G>T	NP_001310440.1:p.Ala136Ser
NM_001323512.2:c.691G>T	NP_001310441.1:p.Ala231Ser