Canonical Allele Identifier: CA341323358
Gene: AGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99851046G>C , CM000663.2:g.99851046G>C GRCh38
NC_000001.10:g.100316602G>C , CM000663.1:g.100316602G>C GRCh37
NC_000001.9:g.100089190G>C NCBI36
NG_012865.1:g.5963G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000642.3:c.4G>C MANE Select NP_000633.2:p.Gly2Arg
ENST00000361915.8:c.4G>C MANE Select ENSP00000355106.3:p.Gly2Arg
NM_000028.2:c.4G>C NP_000019.2:p.Gly2Arg
NM_000642.2:c.4G>C NP_000633.2:p.Gly2Arg
NM_000643.2:c.4G>C NP_000634.2:p.Gly2Arg
NM_000644.2:c.4G>C NP_000635.2:p.Gly2Arg
NM_000646.2:c.-188G>C NP_000637.2:n.-188G>C
ENST00000294724.8:c.4G>C ENSP00000294724.4:p.Gly2Arg
ENST00000361302.7:c.-188G>C ENSP00000354971.3:n.-188G>C
ENST00000361915.7:c.4G>C ENSP00000355106.3:p.Gly2Arg
ENST00000370163.7:c.4G>C ENSP00000359182.3:p.Gly2Arg
ENST00000370165.7:c.4G>C ENSP00000359184.3:p.Gly2Arg
XM_005270557.1:c.4G>C XP_005270614.1:p.Gly2Arg
XM_005270557.2:c.4G>C XP_005270614.1:p.Gly2Arg