Canonical Allele Identifier: CA520659048
Gene: AGRN HGNC NCBI

Linked Data

dbSNP Id: rs1317875061
gnomAD v2: 1-983084-G-A
gnomAD v4: 1-1047704-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1047704G>A , CM000663.2:g.1047704G>A GRCh38
NC_000001.10:g.983084G>A , CM000663.1:g.983084G>A GRCh37
NC_000001.9:g.972947G>A NCBI36
NG_016346.1:g.32582G>A , LRG_198:g.32582G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.3631+17G>A MANE Select ENSP00000368678.2:n.3631+17G>A
ENST00000651234.1:c.3316+17G>A ENSP00000499046.1:n.3316+17G>A
ENST00000652369.1:c.3316+17G>A ENSP00000498543.1:n.3316+17G>A
ENST00000379370.6:c.3631+17G>A ENSP00000368678.2:n.3631+17G>A
ENST00000466223.1:n.369+17G>A
ENST00000478677.1:n.213+17G>A
ENST00000620552.4:c.3217+17G>A ENSP00000484607.1:n.3217+17G>A
NM_001305275.1:c.3631+17G>A NP_001292204.1:n.3631+17G>A
NM_198576.3:c.3631+17G>A NP_940978.2:n.3631+17G>A
XM_005244749.2:c.3631+17G>A XP_005244806.1:n.3631+17G>A
XM_006710635.2:c.3631+17G>A XP_006710698.1:n.3631+17G>A
XM_011541429.1:c.3631+17G>A XP_011539731.1:n.3631+17G>A
XM_011541430.1:c.2758+17G>A XP_011539732.1:n.2758+17G>A
XM_011541431.1:c.1897+17G>A XP_011539733.1:n.1897+17G>A
XR_946650.1:n.3698+17G>A
NM_001364727.1:c.3316+17G>A NP_001351656.1:n.3316+17G>A
XM_005244749.3:c.3631+17G>A XP_005244806.1:n.3631+17G>A
XM_011541429.2:c.3631+17G>A XP_011539731.1:n.3631+17G>A
XR_946650.2:n.3702+17G>A
NM_001305275.2:c.3631+17G>A NP_001292204.1:n.3631+17G>A
NM_198576.4:c.3631+17G>A MANE Select NP_940978.2:n.3631+17G>A
NM_001364727.2:c.3316+17G>A NP_001351656.1:n.3316+17G>A