Canonical Allele Identifier: CA10610903
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 291358
ClinVar RCV Id: RCV000316745
dbSNP Id: rs886044928
gnomAD v3: 1-99922331-T-A
gnomAD v4: 1-99922331-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99922331T>A , CM000663.2:g.99922331T>A GRCh38
NC_000001.10:g.100387887T>A , CM000663.1:g.100387887T>A GRCh37
NC_000001.9:g.100160475T>A NCBI36
NG_012865.1:g.77248T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.*680T>A MANE Select ENSP00000355106.3:n.*680T>A
ENST00000637337.1:n.5490T>A
ENST00000294724.8:c.*680T>A ENSP00000294724.4:n.*680T>A
ENST00000361302.7:c.*680T>A ENSP00000354971.3:n.*680T>A
ENST00000361522.4:c.*680T>A ENSP00000354635.4:n.*680T>A
ENST00000361915.7:c.*680T>A ENSP00000355106.3:n.*680T>A
ENST00000370161.6:c.5231T>A ENSP00000359180.2:n.5231T>A
ENST00000370163.7:c.*680T>A ENSP00000359182.3:n.*680T>A
ENST00000370165.7:c.*680T>A ENSP00000359184.3:n.*680T>A
NM_000028.2:c.*680T>A NP_000019.2:n.*680T>A
NM_000642.2:c.*680T>A NP_000633.2:n.*680T>A
NM_000643.2:c.*680T>A NP_000634.2:n.*680T>A
NM_000644.2:c.*680T>A NP_000635.2:n.*680T>A
NM_000645.2:c.*680T>A NP_000636.2:n.*680T>A
NM_000646.2:c.*680T>A NP_000637.2:n.*680T>A
XM_005270557.1:c.*680T>A XP_005270614.1:n.*680T>A
XR_947626.1:n.1317+1907A>T
XR_947627.1:n.1206+1907A>T
XR_947628.1:n.1311+1907A>T
XR_947630.1:n.1249+1907A>T
XR_947632.1:n.1135+1907A>T
XR_947633.1:n.1246+1907A>T
XR_947634.1:n.660+1907A>T
XR_947635.1:n.728+1907A>T
XM_005270557.2:c.*680T>A XP_005270614.1:n.*680T>A
XM_017000501.2:c.*680T>A XP_016855990.1:n.*680T>A
NM_000642.3:c.*680T>A MANE Select NP_000633.2:n.*680T>A