Canonical Allele Identifier: CA341331442
Gene: AGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99900733G>T , CM000663.2:g.99900733G>T GRCh38
NC_000001.10:g.100366289G>T , CM000663.1:g.100366289G>T GRCh37
NC_000001.9:g.100138877G>T NCBI36
NG_012865.1:g.55650G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.3460G>T MANE Select ENSP00000355106.3:p.Val1154Leu
ENST00000637337.1:n.3671G>T
ENST00000294724.8:c.3460G>T ENSP00000294724.4:p.Val1154Leu
ENST00000361302.7:c.3412G>T ENSP00000354971.3:p.Val1138Leu
ENST00000361522.4:c.3409G>T ENSP00000354635.4:p.Val1137Leu
ENST00000361915.7:c.3460G>T ENSP00000355106.3:p.Val1154Leu
ENST00000370161.6:c.3412G>T ENSP00000359180.2:p.Val1138Leu
ENST00000370163.7:c.3460G>T ENSP00000359182.3:p.Val1154Leu
ENST00000370165.7:c.3460G>T ENSP00000359184.3:p.Val1154Leu
NM_000028.2:c.3460G>T NP_000019.2:p.Val1154Leu
NM_000642.2:c.3460G>T NP_000633.2:p.Val1154Leu
NM_000643.2:c.3460G>T NP_000634.2:p.Val1154Leu
NM_000644.2:c.3460G>T NP_000635.2:p.Val1154Leu
NM_000645.2:c.3409G>T NP_000636.2:p.Val1137Leu
NM_000646.2:c.3412G>T NP_000637.2:p.Val1138Leu
XM_005270557.1:c.3460G>T XP_005270614.1:p.Val1154Leu
XM_005270557.2:c.3460G>T XP_005270614.1:p.Val1154Leu
XM_017000501.2:c.1720G>T XP_016855990.1:p.Val574Leu
NM_000642.3:c.3460G>T MANE Select NP_000633.2:p.Val1154Leu