Canonical Allele Identifier: CA2646739733
Gene: AGL HGNC NCBI

Linked Data

gnomAD v4: 1-99921936-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99921936A>T , CM000663.2:g.99921936A>T GRCh38
NC_000001.10:g.100387492A>T , CM000663.1:g.100387492A>T GRCh37
NC_000001.9:g.100160080A>T NCBI36
NG_012865.1:g.76853A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.*285A>T MANE Select ENSP00000355106.3:n.*285A>T
ENST00000637337.1:n.5095A>T
ENST00000294724.8:c.*285A>T ENSP00000294724.4:n.*285A>T
ENST00000361302.7:c.*285A>T ENSP00000354971.3:n.*285A>T
ENST00000361522.4:c.*285A>T ENSP00000354635.4:n.*285A>T
ENST00000361915.7:c.*285A>T ENSP00000355106.3:n.*285A>T
ENST00000370161.6:c.4836A>T ENSP00000359180.2:n.4836A>T
ENST00000370163.7:c.*285A>T ENSP00000359182.3:n.*285A>T
ENST00000370165.7:c.*285A>T ENSP00000359184.3:n.*285A>T
NM_000028.2:c.*285A>T NP_000019.2:n.*285A>T
NM_000642.2:c.*285A>T NP_000633.2:n.*285A>T
NM_000643.2:c.*285A>T NP_000634.2:n.*285A>T
NM_000644.2:c.*285A>T NP_000635.2:n.*285A>T
NM_000645.2:c.*285A>T NP_000636.2:n.*285A>T
NM_000646.2:c.*285A>T NP_000637.2:n.*285A>T
XM_005270557.1:c.*285A>T XP_005270614.1:n.*285A>T
XR_947626.1:n.1317+2302T>A
XR_947627.1:n.1206+2302T>A
XR_947628.1:n.1311+2302T>A
XR_947630.1:n.1249+2302T>A
XR_947632.1:n.1135+2302T>A
XR_947633.1:n.1246+2302T>A
XR_947634.1:n.660+2302T>A
XR_947635.1:n.728+2302T>A
XM_005270557.2:c.*285A>T XP_005270614.1:n.*285A>T
XM_017000501.2:c.*285A>T XP_016855990.1:n.*285A>T
NM_000642.3:c.*285A>T MANE Select NP_000633.2:n.*285A>T