Canonical Allele Identifier: CA4168309

Gene: AGMO

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.15365564G>A , CM000669.2:g.15365564G>A	GRCh38
NC_000007.13:g.15405189G>A , CM000669.1:g.15405189G>A	GRCh37
NC_000007.12:g.15371714G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001004320.2:c.1213C>T MANE Select	NP_001004320.1:p.Arg405Ter
ENST00000342526.8:c.1213C>T MANE Select	ENSP00000341662.3:p.Arg405Ter
NM_001004320.1:c.1213C>T	NP_001004320.1:p.Arg405Ter
ENST00000342526.7:c.1213C>T	ENSP00000341662.3:p.Arg405Ter
ENST00000407277.6:c.104C>T
ENST00000418075.1:c.139C>T	ENSP00000394412.1:p.Arg47Ter
XM_006715730.1:c.1213C>T	XP_006715793.1:p.Arg405Ter
XM_006715731.2:c.1213C>T	XP_006715794.1:p.Arg405Ter
XM_006715731.3:c.1213C>T	XP_006715794.1:p.Arg405Ter
XM_011515402.1:c.1213C>T	XP_011513704.1:p.Arg405Ter
XM_011515402.3:c.1213C>T	XP_011513704.1:p.Arg405Ter
XM_011515403.1:c.1147C>T	XP_011513705.1:p.Arg383Ter
XM_017012204.1:c.1213C>T	XP_016867693.1:p.Arg405Ter
XR_001744759.1:n.1383C>T