Canonical Allele Identifier: CA967475
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 526607
dbSNP Id: rs372116308
gnomAD v3: 1-99921627-T-A
gnomAD v4: 1-99921627-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99921627T>A , CM000663.2:g.99921627T>A GRCh38
NC_000001.10:g.100387183T>A , CM000663.1:g.100387183T>A GRCh37
NC_000001.9:g.100159771T>A NCBI36
NG_012865.1:g.76544T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.4575T>A MANE Select ENSP00000355106.3:p.Ile1525=
ENST00000637337.1:n.4786T>A
ENST00000294724.8:c.4575T>A ENSP00000294724.4:p.Ile1525=
ENST00000361302.7:c.4527T>A ENSP00000354971.3:p.Ile1509=
ENST00000361522.4:c.4524T>A ENSP00000354635.4:p.Ile1508=
ENST00000361915.7:c.4575T>A ENSP00000355106.3:p.Ile1525=
ENST00000370161.6:c.4527T>A ENSP00000359180.2:p.Ile1509=
ENST00000370163.7:c.4575T>A ENSP00000359182.3:p.Ile1525=
ENST00000370165.7:c.4575T>A ENSP00000359184.3:p.Ile1525=
NM_000028.2:c.4575T>A NP_000019.2:p.Ile1525=
NM_000642.2:c.4575T>A NP_000633.2:p.Ile1525=
NM_000643.2:c.4575T>A NP_000634.2:p.Ile1525=
NM_000644.2:c.4575T>A NP_000635.2:p.Ile1525=
NM_000645.2:c.4524T>A NP_000636.2:p.Ile1508=
NM_000646.2:c.4527T>A NP_000637.2:p.Ile1509=
XM_005270557.1:c.4575T>A XP_005270614.1:p.Ile1525=
XR_947626.1:n.1317+2611A>T
XR_947627.1:n.1206+2611A>T
XR_947628.1:n.1311+2611A>T
XR_947630.1:n.1249+2611A>T
XR_947632.1:n.1135+2611A>T
XR_947633.1:n.1246+2611A>T
XR_947634.1:n.660+2611A>T
XR_947635.1:n.728+2611A>T
XM_005270557.2:c.4575T>A XP_005270614.1:p.Ile1525=
XM_017000501.2:c.2835T>A XP_016855990.1:p.Ile945=
NM_000642.3:c.4575T>A MANE Select NP_000633.2:p.Ile1525=