Canonical Allele Identifier: CA337834421
Gene: AGRN HGNC NCBI

Linked Data

dbSNP Id: rs1204633968
gnomAD v2: 1-979226-G-A
gnomAD v4: 1-1043846-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1043846G>A , CM000663.2:g.1043846G>A GRCh38
NC_000001.10:g.979226G>A , CM000663.1:g.979226G>A GRCh37
NC_000001.9:g.969089G>A NCBI36
NG_016346.1:g.28724G>A , LRG_198:g.28724G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.1822G>A MANE Select ENSP00000368678.2:p.Ala608Thr
ENST00000651234.1:c.1507G>A ENSP00000499046.1:p.Ala503Thr
ENST00000652369.1:c.1507G>A ENSP00000498543.1:p.Ala503Thr
ENST00000379370.6:c.1822G>A ENSP00000368678.2:p.Ala608Thr
ENST00000620552.4:c.1408G>A ENSP00000484607.1:p.Ala470Thr
NM_001305275.1:c.1822G>A NP_001292204.1:p.Ala608Thr
NM_198576.3:c.1822G>A NP_940978.2:p.Ala608Thr
XM_005244749.2:c.1822G>A XP_005244806.1:p.Ala608Thr
XM_006710635.2:c.1822G>A XP_006710698.1:p.Ala608Thr
XM_011541429.1:c.1822G>A XP_011539731.1:p.Ala608Thr
XM_011541430.1:c.949G>A XP_011539732.1:p.Ala317Thr
XM_011541431.1:c.88G>A XP_011539733.1:p.Ala30Thr
XR_946650.1:n.1889G>A
NM_001364727.1:c.1507G>A NP_001351656.1:p.Ala503Thr
XM_005244749.3:c.1822G>A XP_005244806.1:p.Ala608Thr
XM_011541429.2:c.1822G>A XP_011539731.1:p.Ala608Thr
XR_946650.2:n.1893G>A
NM_001305275.2:c.1822G>A NP_001292204.1:p.Ala608Thr
NM_198576.4:c.1822G>A MANE Select NP_940978.2:p.Ala608Thr
NM_001364727.2:c.1507G>A NP_001351656.1:p.Ala503Thr