Canonical Allele Identifier: CA966146
Gene: AGL HGNC NCBI

Linked Data

dbSNP Id: rs751057972
gnomAD v4: 1-99862324-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99862324G>T , CM000663.2:g.99862324G>T GRCh38
NC_000001.10:g.100327880G>T , CM000663.1:g.100327880G>T GRCh37
NC_000001.9:g.100100468G>T NCBI36
NG_012865.1:g.17241G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.361G>T MANE Select ENSP00000355106.3:p.Val121Leu
ENST00000637337.1:n.572G>T
ENST00000294724.8:c.361G>T ENSP00000294724.4:p.Val121Leu
ENST00000361302.7:c.313G>T ENSP00000354971.3:p.Val105Leu
ENST00000361522.4:c.310G>T ENSP00000354635.4:p.Val104Leu
ENST00000361915.7:c.361G>T ENSP00000355106.3:p.Val121Leu
ENST00000370161.6:c.313G>T ENSP00000359180.2:p.Val105Leu
ENST00000370163.7:c.361G>T ENSP00000359182.3:p.Val121Leu
ENST00000370165.7:c.361G>T ENSP00000359184.3:p.Val121Leu
NM_000028.2:c.361G>T NP_000019.2:p.Val121Leu
NM_000642.2:c.361G>T NP_000633.2:p.Val121Leu
NM_000643.2:c.361G>T NP_000634.2:p.Val121Leu
NM_000644.2:c.361G>T NP_000635.2:p.Val121Leu
NM_000645.2:c.310G>T NP_000636.2:p.Val104Leu
NM_000646.2:c.313G>T NP_000637.2:p.Val105Leu
XM_005270557.1:c.361G>T XP_005270614.1:p.Val121Leu
XM_005270557.2:c.361G>T XP_005270614.1:p.Val121Leu
NM_000642.3:c.361G>T MANE Select NP_000633.2:p.Val121Leu