Canonical Allele Identifier: CA415758455
Gene: AGRN HGNC NCBI

Linked Data

dbSNP Id: rs1306357418
gnomAD v3: 1-1048265-A-C
gnomAD v4: 1-1048265-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1048265A>C , CM000663.2:g.1048265A>C GRCh38
NC_000001.10:g.983645A>C , CM000663.1:g.983645A>C GRCh37
NC_000001.9:g.973508A>C NCBI36
NG_016346.1:g.33143A>C , LRG_198:g.33143A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379370.7:c.4005A>C MANE Select ENSP00000368678.2:p.Ser1335=
ENST00000651234.1:c.3690A>C ENSP00000499046.1:p.Ser1230=
ENST00000652369.1:c.3690A>C ENSP00000498543.1:p.Ser1230=
ENST00000379370.6:c.4005A>C ENSP00000368678.2:p.Ser1335=
ENST00000620552.4:c.3591A>C ENSP00000484607.1:p.Ser1197=
NM_001305275.1:c.4005A>C NP_001292204.1:p.Ser1335=
NM_198576.3:c.4005A>C NP_940978.2:p.Ser1335=
XM_005244749.2:c.4005A>C XP_005244806.1:p.Ser1335=
XM_006710635.2:c.4005A>C XP_006710698.1:p.Ser1335=
XM_011541429.1:c.4005A>C XP_011539731.1:p.Ser1335=
XM_011541430.1:c.3132A>C XP_011539732.1:p.Ser1044=
XM_011541431.1:c.2271A>C XP_011539733.1:p.Ser757=
XR_946650.1:n.4072A>C
NM_001364727.1:c.3690A>C NP_001351656.1:p.Ser1230=
XM_005244749.3:c.4005A>C XP_005244806.1:p.Ser1335=
XM_011541429.2:c.4005A>C XP_011539731.1:p.Ser1335=
XR_946650.2:n.4076A>C
NM_001305275.2:c.4005A>C NP_001292204.1:p.Ser1335=
NM_198576.4:c.4005A>C MANE Select NP_940978.2:p.Ser1335=
NM_001364727.2:c.3690A>C NP_001351656.1:p.Ser1230=