Canonical Allele Identifier: CA337834413
Gene: AGRN HGNC NCBI

Linked Data

gnomAD v4: 1-1043844-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1043844G>A , CM000663.2:g.1043844G>A GRCh38
NC_000001.10:g.979224G>A , CM000663.1:g.979224G>A GRCh37
NC_000001.9:g.969087G>A NCBI36
NG_016346.1:g.28722G>A , LRG_198:g.28722G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.1820G>A MANE Select ENSP00000368678.2:p.Cys607Tyr
ENST00000651234.1:c.1505G>A ENSP00000499046.1:p.Cys502Tyr
ENST00000652369.1:c.1505G>A ENSP00000498543.1:p.Cys502Tyr
ENST00000379370.6:c.1820G>A ENSP00000368678.2:p.Cys607Tyr
ENST00000620552.4:c.1406G>A ENSP00000484607.1:p.Cys469Tyr
NM_001305275.1:c.1820G>A NP_001292204.1:p.Cys607Tyr
NM_198576.3:c.1820G>A NP_940978.2:p.Cys607Tyr
XM_005244749.2:c.1820G>A XP_005244806.1:p.Cys607Tyr
XM_006710635.2:c.1820G>A XP_006710698.1:p.Cys607Tyr
XM_011541429.1:c.1820G>A XP_011539731.1:p.Cys607Tyr
XM_011541430.1:c.947G>A XP_011539732.1:p.Cys316Tyr
XM_011541431.1:c.86G>A XP_011539733.1:p.Cys29Tyr
XR_946650.1:n.1887G>A
NM_001364727.1:c.1505G>A NP_001351656.1:p.Cys502Tyr
XM_005244749.3:c.1820G>A XP_005244806.1:p.Cys607Tyr
XM_011541429.2:c.1820G>A XP_011539731.1:p.Cys607Tyr
XR_946650.2:n.1891G>A
NM_001305275.2:c.1820G>A NP_001292204.1:p.Cys607Tyr
NM_198576.4:c.1820G>A MANE Select NP_940978.2:p.Cys607Tyr
NM_001364727.2:c.1505G>A NP_001351656.1:p.Cys502Tyr