Canonical Allele Identifier: CA967055
Gene: AGL HGNC NCBI

Linked Data

dbSNP Id: rs749476338
gnomAD v3: 1-99896379-T-A
gnomAD v4: 1-99896379-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99896379T>A , CM000663.2:g.99896379T>A GRCh38
NC_000001.10:g.100361935T>A , CM000663.1:g.100361935T>A GRCh37
NC_000001.9:g.100134523T>A NCBI36
NG_012865.1:g.51296T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.3353T>A MANE Select ENSP00000355106.3:p.Val1118Glu
ENST00000637337.1:n.3564T>A
ENST00000294724.8:c.3353T>A ENSP00000294724.4:p.Val1118Glu
ENST00000361302.7:c.3305T>A ENSP00000354971.3:p.Val1102Glu
ENST00000361522.4:c.3302T>A ENSP00000354635.4:p.Val1101Glu
ENST00000361915.7:c.3353T>A ENSP00000355106.3:p.Val1118Glu
ENST00000370161.6:c.3305T>A ENSP00000359180.2:p.Val1102Glu
ENST00000370163.7:c.3353T>A ENSP00000359182.3:p.Val1118Glu
ENST00000370165.7:c.3353T>A ENSP00000359184.3:p.Val1118Glu
NM_000028.2:c.3353T>A NP_000019.2:p.Val1118Glu
NM_000642.2:c.3353T>A NP_000633.2:p.Val1118Glu
NM_000643.2:c.3353T>A NP_000634.2:p.Val1118Glu
NM_000644.2:c.3353T>A NP_000635.2:p.Val1118Glu
NM_000645.2:c.3302T>A NP_000636.2:p.Val1101Glu
NM_000646.2:c.3305T>A NP_000637.2:p.Val1102Glu
XM_005270557.1:c.3353T>A XP_005270614.1:p.Val1118Glu
XM_005270557.2:c.3353T>A XP_005270614.1:p.Val1118Glu
XM_017000501.2:c.1613T>A XP_016855990.1:p.Val538Glu
NM_000642.3:c.3353T>A MANE Select NP_000633.2:p.Val1118Glu