Canonical Allele Identifier: CA2646739551
Gene: AGL HGNC NCBI

Linked Data

gnomAD v4: 1-99921689-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99921689T>G , CM000663.2:g.99921689T>G GRCh38
NC_000001.10:g.100387245T>G , CM000663.1:g.100387245T>G GRCh37
NC_000001.9:g.100159833T>G NCBI36
NG_012865.1:g.76606T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.*38T>G MANE Select ENSP00000355106.3:n.*38T>G
ENST00000637337.1:n.4848T>G
ENST00000294724.8:c.*38T>G ENSP00000294724.4:n.*38T>G
ENST00000361302.7:c.*38T>G ENSP00000354971.3:n.*38T>G
ENST00000361522.4:c.*38T>G ENSP00000354635.4:n.*38T>G
ENST00000361915.7:c.*38T>G ENSP00000355106.3:n.*38T>G
ENST00000370161.6:c.4589T>G ENSP00000359180.2:n.4589T>G
ENST00000370163.7:c.*38T>G ENSP00000359182.3:n.*38T>G
ENST00000370165.7:c.*38T>G ENSP00000359184.3:n.*38T>G
NM_000028.2:c.*38T>G NP_000019.2:n.*38T>G
NM_000642.2:c.*38T>G NP_000633.2:n.*38T>G
NM_000643.2:c.*38T>G NP_000634.2:n.*38T>G
NM_000644.2:c.*38T>G NP_000635.2:n.*38T>G
NM_000645.2:c.*38T>G NP_000636.2:n.*38T>G
NM_000646.2:c.*38T>G NP_000637.2:n.*38T>G
XM_005270557.1:c.*38T>G XP_005270614.1:n.*38T>G
XR_947626.1:n.1317+2549A>C
XR_947627.1:n.1206+2549A>C
XR_947628.1:n.1311+2549A>C
XR_947630.1:n.1249+2549A>C
XR_947632.1:n.1135+2549A>C
XR_947633.1:n.1246+2549A>C
XR_947634.1:n.660+2549A>C
XR_947635.1:n.728+2549A>C
XM_005270557.2:c.*38T>G XP_005270614.1:n.*38T>G
XM_017000501.2:c.*38T>G XP_016855990.1:n.*38T>G
NM_000642.3:c.*38T>G MANE Select NP_000633.2:n.*38T>G