Canonical Allele Identifier: CA341345193
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 1047162
dbSNP Id: rs1275707003
gnomAD v3: 1-99875371-T-C
gnomAD v4: 1-99875371-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99875371T>C , CM000663.2:g.99875371T>C GRCh38
NC_000001.10:g.100340927T>C , CM000663.1:g.100340927T>C GRCh37
NC_000001.9:g.100113515T>C NCBI36
NG_012865.1:g.30288T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.1199T>C MANE Select ENSP00000355106.3:p.Leu400Pro
ENST00000637337.1:n.1410T>C
ENST00000294724.8:c.1199T>C ENSP00000294724.4:p.Leu400Pro
ENST00000361302.7:c.1151T>C ENSP00000354971.3:p.Leu384Pro
ENST00000361522.4:c.1148T>C ENSP00000354635.4:p.Leu383Pro
ENST00000361915.7:c.1199T>C ENSP00000355106.3:p.Leu400Pro
ENST00000370161.6:c.1151T>C ENSP00000359180.2:p.Leu384Pro
ENST00000370163.7:c.1199T>C ENSP00000359182.3:p.Leu400Pro
ENST00000370165.7:c.1199T>C ENSP00000359184.3:p.Leu400Pro
ENST00000477753.1:n.458T>C
NM_000028.2:c.1199T>C NP_000019.2:p.Leu400Pro
NM_000642.2:c.1199T>C NP_000633.2:p.Leu400Pro
NM_000643.2:c.1199T>C NP_000634.2:p.Leu400Pro
NM_000644.2:c.1199T>C NP_000635.2:p.Leu400Pro
NM_000645.2:c.1148T>C NP_000636.2:p.Leu383Pro
NM_000646.2:c.1151T>C NP_000637.2:p.Leu384Pro
XM_005270557.1:c.1199T>C XP_005270614.1:p.Leu400Pro
XM_005270557.2:c.1199T>C XP_005270614.1:p.Leu400Pro
NM_000642.3:c.1199T>C MANE Select NP_000633.2:p.Leu400Pro