Canonical Allele Identifier: CA967161
Gene: AGL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.99902713G>A
GRCh37 chr1:g.100368269G>A
Revel Score:
ENST00000361915 (MANE Select) 0.212
ENST00000370165 0.212
ENST00000370163 0.212
ENST00000294724 0.212
ENST00000361302 0.212
ENST00000370161 0.212
ENST00000361522 0.212
gnomAD v2:
1:100368269 G / A
gnomAD v3:
1:99902713 G / A
gnomAD v4:
chr1-99902713-G-A
Joint Max Group AF 0.02878719 (AFR)
Genomes Max Group AF 0.02850335 (AFR)
Exomes Max Group AF 0.02819921 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99902713G>A , CM000663.2:g.99902713G>A GRCh38
NC_000001.10:g.100368269G>A , CM000663.1:g.100368269G>A GRCh37
NC_000001.9:g.100140857G>A NCBI36
NG_012865.1:g.57630G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.3619G>A MANE Select ENSP00000355106.3:p.Ala1207Thr
ENST00000637337.1:n.3830G>A
ENST00000294724.8:c.3619G>A ENSP00000294724.4:p.Ala1207Thr
ENST00000361302.7:c.3571G>A ENSP00000354971.3:p.Ala1191Thr
ENST00000361522.4:c.3568G>A ENSP00000354635.4:p.Ala1190Thr
ENST00000361915.7:c.3619G>A ENSP00000355106.3:p.Ala1207Thr
ENST00000370161.6:c.3571G>A ENSP00000359180.2:p.Ala1191Thr
ENST00000370163.7:c.3619G>A ENSP00000359182.3:p.Ala1207Thr
ENST00000370165.7:c.3619G>A ENSP00000359184.3:p.Ala1207Thr
NM_000028.2:c.3619G>A NP_000019.2:p.Ala1207Thr
NM_000642.2:c.3619G>A NP_000633.2:p.Ala1207Thr
NM_000643.2:c.3619G>A NP_000634.2:p.Ala1207Thr
NM_000644.2:c.3619G>A NP_000635.2:p.Ala1207Thr
NM_000645.2:c.3568G>A NP_000636.2:p.Ala1190Thr
NM_000646.2:c.3571G>A NP_000637.2:p.Ala1191Thr
XM_005270557.1:c.3619G>A XP_005270614.1:p.Ala1207Thr
XM_005270557.2:c.3619G>A XP_005270614.1:p.Ala1207Thr
XM_017000501.2:c.1879G>A XP_016855990.1:p.Ala627Thr
NM_000642.3:c.3619G>A MANE Select NP_000633.2:p.Ala1207Thr
Search 100 bp 5'
Search 100 bp 3'