Canonical Allele Identifier: CA966137
Gene: AGL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.99862297A>G
GRCh37 chr1:g.100327853A>G
Revel Score:
ENST00000361915 (MANE Select) 0.026
ENST00000370165 0.026
ENST00000370163 0.026
ENST00000294724 0.026
ENST00000361302 0.026
ENST00000370161 0.026
ENST00000361522 0.026
gnomAD v2:
1:100327853 A / G
gnomAD v3:
1:99862297 A / G
gnomAD v4:
chr1-99862297-A-G
Joint Max Group AF 0.00118396 (NFE)
Genomes Max Group AF 0.00092837 (NFE)
Exomes Max Group AF 0.00118892 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99862297A>G , CM000663.2:g.99862297A>G GRCh38
NC_000001.10:g.100327853A>G , CM000663.1:g.100327853A>G GRCh37
NC_000001.9:g.100100441A>G NCBI36
NG_012865.1:g.17214A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.334A>G MANE Select ENSP00000355106.3:p.Ile112Val
ENST00000637337.1:n.545A>G
ENST00000294724.8:c.334A>G ENSP00000294724.4:p.Ile112Val
ENST00000361302.7:c.286A>G ENSP00000354971.3:p.Ile96Val
ENST00000361522.4:c.283A>G ENSP00000354635.4:p.Ile95Val
ENST00000361915.7:c.334A>G ENSP00000355106.3:p.Ile112Val
ENST00000370161.6:c.286A>G ENSP00000359180.2:p.Ile96Val
ENST00000370163.7:c.334A>G ENSP00000359182.3:p.Ile112Val
ENST00000370165.7:c.334A>G ENSP00000359184.3:p.Ile112Val
NM_000028.2:c.334A>G NP_000019.2:p.Ile112Val
NM_000642.2:c.334A>G NP_000633.2:p.Ile112Val
NM_000643.2:c.334A>G NP_000634.2:p.Ile112Val
NM_000644.2:c.334A>G NP_000635.2:p.Ile112Val
NM_000645.2:c.283A>G NP_000636.2:p.Ile95Val
NM_000646.2:c.286A>G NP_000637.2:p.Ile96Val
XM_005270557.1:c.334A>G XP_005270614.1:p.Ile112Val
XM_005270557.2:c.334A>G XP_005270614.1:p.Ile112Val
NM_000642.3:c.334A>G MANE Select NP_000633.2:p.Ile112Val
Search 100 bp 5'
Search 100 bp 3'