Canonical Allele Identifier: CA4168304
Community Standard Title: NM_001004320.2(AGMO):c.1221T>G (p.Gly407=)
Gene: AGMO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.15365556A>C , CM000669.2:g.15365556A>C GRCh38
NC_000007.13:g.15405181A>C , CM000669.1:g.15405181A>C GRCh37
NC_000007.12:g.15371706A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001004320.2:c.1221T>G MANE Select NP_001004320.1:p.Gly407=
ENST00000342526.8:c.1221T>G MANE Select ENSP00000341662.3:p.Gly407=
NM_001004320.1:c.1221T>G NP_001004320.1:p.Gly407=
ENST00000342526.7:c.1221T>G ENSP00000341662.3:p.Gly407=
ENST00000407277.6:c.112T>G
ENST00000418075.1:c.147T>G ENSP00000394412.1:p.Gly49=
XM_006715730.1:c.1221T>G XP_006715793.1:p.Gly407=
XM_006715731.2:c.1221T>G XP_006715794.1:p.Gly407=
XM_006715731.3:c.1221T>G XP_006715794.1:p.Gly407=
XM_011515402.1:c.1221T>G XP_011513704.1:p.Gly407=
XM_011515402.3:c.1221T>G XP_011513704.1:p.Gly407=
XM_011515403.1:c.1155T>G XP_011513705.1:p.Gly385=
XM_017012204.1:c.1221T>G XP_016867693.1:p.Gly407=
XR_001744759.1:n.1391T>G