Canonical Allele Identifier: CA10970314
Community Standard Title: NM_000642.3(AGL):c.*2058G>A
Gene: AGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99923709G>A , CM000663.2:g.99923709G>A GRCh38
NC_000001.10:g.100389265G>A , CM000663.1:g.100389265G>A GRCh37
NC_000001.9:g.100161853G>A NCBI36
NG_012865.1:g.78626G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000642.3:c.*2058G>A MANE Select NP_000633.2:n.*2058G>A
ENST00000361915.8:c.*2058G>A MANE Select ENSP00000355106.3:n.*2058G>A
NM_000028.2:c.*2058G>A NP_000019.2:n.*2058G>A
NM_000642.2:c.*2058G>A NP_000633.2:n.*2058G>A
NM_000643.2:c.*2058G>A NP_000634.2:n.*2058G>A
NM_000644.2:c.*2058G>A NP_000635.2:n.*2058G>A
NM_000645.2:c.*2058G>A NP_000636.2:n.*2058G>A
NM_000646.2:c.*2058G>A NP_000637.2:n.*2058G>A
ENST00000294724.8:c.*2058G>A ENSP00000294724.4:n.*2058G>A
ENST00000361302.7:c.*2058G>A ENSP00000354971.3:n.*2058G>A
ENST00000361522.4:c.*2058G>A ENSP00000354635.4:n.*2058G>A
ENST00000361915.7:c.*2058G>A ENSP00000355106.3:n.*2058G>A
ENST00000370161.6:c.6609G>A ENSP00000359180.2:n.6609G>A
ENST00000370163.7:c.*2058G>A ENSP00000359182.3:n.*2058G>A
ENST00000370165.7:c.*2058G>A ENSP00000359184.3:n.*2058G>A
ENST00000637337.1:n.6868G>A
XM_005270557.1:c.*2058G>A XP_005270614.1:n.*2058G>A
XM_005270557.2:c.*2058G>A XP_005270614.1:n.*2058G>A
XR_947626.1:n.1317+529C>T
XR_947627.1:n.1206+529C>T
XR_947628.1:n.1311+529C>T
XR_947630.1:n.1249+529C>T
XR_947632.1:n.1135+529C>T
XR_947633.1:n.1246+529C>T
XR_947634.1:n.660+529C>T
XR_947635.1:n.728+529C>T