Canonical Allele Identifier: CA337836213
Gene: AGRN HGNC NCBI

Linked Data

dbSNP Id: rs147021253
gnomAD v3: 1-1044209-C-A
gnomAD v4: 1-1044209-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1044209C>A , CM000663.2:g.1044209C>A GRCh38
NC_000001.10:g.979589C>A , CM000663.1:g.979589C>A GRCh37
NC_000001.9:g.969452C>A NCBI36
NG_016346.1:g.29087C>A , LRG_198:g.29087C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.2100C>A MANE Select ENSP00000368678.2:p.Asp700Glu
ENST00000651234.1:c.1785C>A ENSP00000499046.1:p.Asp595Glu
ENST00000652369.1:c.1785C>A ENSP00000498543.1:p.Asp595Glu
ENST00000379370.6:c.2100C>A ENSP00000368678.2:p.Asp700Glu
ENST00000620552.4:c.1686C>A ENSP00000484607.1:p.Asp562Glu
NM_001305275.1:c.2100C>A NP_001292204.1:p.Asp700Glu
NM_198576.3:c.2100C>A NP_940978.2:p.Asp700Glu
XM_005244749.2:c.2100C>A XP_005244806.1:p.Asp700Glu
XM_006710635.2:c.2100C>A XP_006710698.1:p.Asp700Glu
XM_011541429.1:c.2100C>A XP_011539731.1:p.Asp700Glu
XM_011541430.1:c.1227C>A XP_011539732.1:p.Asp409Glu
XM_011541431.1:c.366C>A XP_011539733.1:p.Asp122Glu
XR_946650.1:n.2167C>A
NM_001364727.1:c.1785C>A NP_001351656.1:p.Asp595Glu
XM_005244749.3:c.2100C>A XP_005244806.1:p.Asp700Glu
XM_011541429.2:c.2100C>A XP_011539731.1:p.Asp700Glu
XR_946650.2:n.2171C>A
NM_001305275.2:c.2100C>A NP_001292204.1:p.Asp700Glu
NM_198576.4:c.2100C>A MANE Select NP_940978.2:p.Asp700Glu
NM_001364727.2:c.1785C>A NP_001351656.1:p.Asp595Glu