Canonical Allele Identifier: CA967352
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 291346
ClinVar RCV Id: RCV000295936
dbSNP Id: rs772976797

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99915434A>T , CM000663.2:g.99915434A>T GRCh38
NC_000001.10:g.100380990A>T , CM000663.1:g.100380990A>T GRCh37
NC_000001.9:g.100153578A>T NCBI36
NG_012865.1:g.70351A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.4207A>T MANE Select ENSP00000355106.3:p.Ile1403Phe
ENST00000637337.1:n.4418A>T
ENST00000294724.8:c.4207A>T ENSP00000294724.4:p.Ile1403Phe
ENST00000361302.7:c.4159A>T ENSP00000354971.3:p.Ile1387Phe
ENST00000361522.4:c.4156A>T ENSP00000354635.4:p.Ile1386Phe
ENST00000361915.7:c.4207A>T ENSP00000355106.3:p.Ile1403Phe
ENST00000370161.6:n.4159A>T ENSP00000359180.2:p.Ile1387Phe
ENST00000370163.7:c.4207A>T ENSP00000359182.3:p.Ile1403Phe
ENST00000370165.7:c.4207A>T ENSP00000359184.3:p.Ile1403Phe
NM_000028.2:c.4207A>T NP_000019.2:p.Ile1403Phe
NM_000642.2:c.4207A>T NP_000633.2:p.Ile1403Phe
NM_000643.2:c.4207A>T NP_000634.2:p.Ile1403Phe
NM_000644.2:c.4207A>T NP_000635.2:p.Ile1403Phe
NM_000645.2:c.4156A>T NP_000636.2:p.Ile1386Phe
NM_000646.2:c.4159A>T NP_000637.2:p.Ile1387Phe
XM_005270557.1:c.4207A>T XP_005270614.1:p.Ile1403Phe
XR_947626.1:n.1318-2217T>A
XR_947627.1:n.1207-2217T>A
XR_947628.1:n.1312-2217T>A
XR_947630.1:n.1250-2217T>A
XR_947632.1:n.1136-2217T>A
XR_947633.1:n.1247-2217T>A
XR_947634.1:n.661-2217T>A
XR_947635.1:n.729-2217T>A
XM_005270557.2:c.4207A>T XP_005270614.1:p.Ile1403Phe
XM_017000501.2:c.2467A>T XP_016855990.1:p.Ile823Phe
NM_000642.3:c.4207A>T MANE Select NP_000633.2:p.Ile1403Phe