Canonical Allele Identifier: CA967470
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 391085
dbSNP Id: rs752519483

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99921591C>T , CM000663.2:g.99921591C>T GRCh38
NC_000001.10:g.100387147C>T , CM000663.1:g.100387147C>T GRCh37
NC_000001.9:g.100159735C>T NCBI36
NG_012865.1:g.76508C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.4539C>T MANE Select ENSP00000355106.3:p.Phe1513=
ENST00000637337.1:n.4750C>T
ENST00000294724.8:c.4539C>T ENSP00000294724.4:p.Phe1513=
ENST00000361302.7:c.4491C>T ENSP00000354971.3:p.Phe1497=
ENST00000361522.4:c.4488C>T ENSP00000354635.4:p.Phe1496=
ENST00000361915.7:c.4539C>T ENSP00000355106.3:p.Phe1513=
ENST00000370161.6:n.4491C>T ENSP00000359180.2:p.Phe1497=
ENST00000370163.7:c.4539C>T ENSP00000359182.3:p.Phe1513=
ENST00000370165.7:c.4539C>T ENSP00000359184.3:p.Phe1513=
NM_000028.2:c.4539C>T NP_000019.2:p.Phe1513=
NM_000642.2:c.4539C>T NP_000633.2:p.Phe1513=
NM_000643.2:c.4539C>T NP_000634.2:p.Phe1513=
NM_000644.2:c.4539C>T NP_000635.2:p.Phe1513=
NM_000645.2:c.4488C>T NP_000636.2:p.Phe1496=
NM_000646.2:c.4491C>T NP_000637.2:p.Phe1497=
XM_005270557.1:c.4539C>T XP_005270614.1:p.Phe1513=
XR_947626.1:n.1317+2647G>A
XR_947627.1:n.1206+2647G>A
XR_947628.1:n.1311+2647G>A
XR_947630.1:n.1249+2647G>A
XR_947632.1:n.1135+2647G>A
XR_947633.1:n.1246+2647G>A
XR_947634.1:n.660+2647G>A
XR_947635.1:n.728+2647G>A
XM_005270557.2:c.4539C>T XP_005270614.1:p.Phe1513=
XM_017000501.2:c.2799C>T XP_016855990.1:p.Phe933=
NM_000642.3:c.4539C>T MANE Select NP_000633.2:p.Phe1513=