Canonical Allele Identifier: CA966593
Gene: AGL HGNC NCBI

Linked Data

dbSNP Id: rs753015481
gnomAD v4: 1-99880680-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99880680G>A , CM000663.2:g.99880680G>A GRCh38
NC_000001.10:g.100346236G>A , CM000663.1:g.100346236G>A GRCh37
NC_000001.9:g.100118824G>A NCBI36
NG_012865.1:g.35597G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.1784G>A MANE Select ENSP00000355106.3:p.Arg595Gln
ENST00000637337.1:n.1995G>A
ENST00000294724.8:c.1784G>A ENSP00000294724.4:p.Arg595Gln
ENST00000361302.7:c.1736G>A ENSP00000354971.3:p.Arg579Gln
ENST00000361522.4:c.1733G>A ENSP00000354635.4:p.Arg578Gln
ENST00000361915.7:c.1784G>A ENSP00000355106.3:p.Arg595Gln
ENST00000370161.6:c.1736G>A ENSP00000359180.2:p.Arg579Gln
ENST00000370163.7:c.1784G>A ENSP00000359182.3:p.Arg595Gln
ENST00000370165.7:c.1784G>A ENSP00000359184.3:p.Arg595Gln
NM_000028.2:c.1784G>A NP_000019.2:p.Arg595Gln
NM_000642.2:c.1784G>A NP_000633.2:p.Arg595Gln
NM_000643.2:c.1784G>A NP_000634.2:p.Arg595Gln
NM_000644.2:c.1784G>A NP_000635.2:p.Arg595Gln
NM_000645.2:c.1733G>A NP_000636.2:p.Arg578Gln
NM_000646.2:c.1736G>A NP_000637.2:p.Arg579Gln
XM_005270557.1:c.1784G>A XP_005270614.1:p.Arg595Gln
XM_005270557.2:c.1784G>A XP_005270614.1:p.Arg595Gln
XM_017000501.2:c.44G>A XP_016855990.1:p.Arg15Gln
NM_000642.3:c.1784G>A MANE Select NP_000633.2:p.Arg595Gln