Canonical Allele Identifier: CA966606
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 1500711
ClinVar RCV Id: RCV002015861
dbSNP Id: rs200933503
gnomAD v3: 1-99880754-C-G
gnomAD v4: 1-99880754-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99880754C>G , CM000663.2:g.99880754C>G GRCh38
NC_000001.10:g.100346310C>G , CM000663.1:g.100346310C>G GRCh37
NC_000001.9:g.100118898C>G NCBI36
NG_012865.1:g.35671C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.1858C>G MANE Select ENSP00000355106.3:p.Leu620Val
ENST00000637337.1:n.2069C>G
ENST00000294724.8:c.1858C>G ENSP00000294724.4:p.Leu620Val
ENST00000361302.7:c.1810C>G ENSP00000354971.3:p.Leu604Val
ENST00000361522.4:c.1807C>G ENSP00000354635.4:p.Leu603Val
ENST00000361915.7:c.1858C>G ENSP00000355106.3:p.Leu620Val
ENST00000370161.6:c.1810C>G ENSP00000359180.2:p.Leu604Val
ENST00000370163.7:c.1858C>G ENSP00000359182.3:p.Leu620Val
ENST00000370165.7:c.1858C>G ENSP00000359184.3:p.Leu620Val
NM_000028.2:c.1858C>G NP_000019.2:p.Leu620Val
NM_000642.2:c.1858C>G NP_000633.2:p.Leu620Val
NM_000643.2:c.1858C>G NP_000634.2:p.Leu620Val
NM_000644.2:c.1858C>G NP_000635.2:p.Leu620Val
NM_000645.2:c.1807C>G NP_000636.2:p.Leu603Val
NM_000646.2:c.1810C>G NP_000637.2:p.Leu604Val
XM_005270557.1:c.1858C>G XP_005270614.1:p.Leu620Val
XM_005270557.2:c.1858C>G XP_005270614.1:p.Leu620Val
XM_017000501.2:c.118C>G XP_016855990.1:p.Leu40Val
NM_000642.3:c.1858C>G MANE Select NP_000633.2:p.Leu620Val