Canonical Allele Identifier: CA966645
Gene: AGL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.99881109A>G
GRCh37 chr1:g.100346665A>G
Revel Score:
ENST00000361915 (MANE Select) 0.222
ENST00000370165 0.222
ENST00000370163 0.222
ENST00000294724 0.222
ENST00000361302 0.222
ENST00000370161 0.222
ENST00000361522 0.222
gnomAD v2:
1:100346665 A / G
gnomAD v3:
1:99881109 A / G
gnomAD v4:
chr1-99881109-A-G
Joint Max Group AF 0.00022092 (AMR)
Genomes Max Group AF 0.00005287 (AMR)
Exomes Max Group AF 0.00024159 (AMR)
ClinVar RCV:
RCV000631127
ClinVar Variation:
526566
dbSNP:
576969969
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99881109A>G , CM000663.2:g.99881109A>G GRCh38
NC_000001.10:g.100346665A>G , CM000663.1:g.100346665A>G GRCh37
NC_000001.9:g.100119253A>G NCBI36
NG_012865.1:g.36026A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.1933A>G MANE Select ENSP00000355106.3:p.Thr645Ala
ENST00000637337.1:n.2144A>G
ENST00000294724.8:c.1933A>G ENSP00000294724.4:p.Thr645Ala
ENST00000361302.7:c.1885A>G ENSP00000354971.3:p.Thr629Ala
ENST00000361522.4:c.1882A>G ENSP00000354635.4:p.Thr628Ala
ENST00000361915.7:c.1933A>G ENSP00000355106.3:p.Thr645Ala
ENST00000370161.6:c.1885A>G ENSP00000359180.2:p.Thr629Ala
ENST00000370163.7:c.1933A>G ENSP00000359182.3:p.Thr645Ala
ENST00000370165.7:c.1933A>G ENSP00000359184.3:p.Thr645Ala
NM_000028.2:c.1933A>G NP_000019.2:p.Thr645Ala
NM_000642.2:c.1933A>G NP_000633.2:p.Thr645Ala
NM_000643.2:c.1933A>G NP_000634.2:p.Thr645Ala
NM_000644.2:c.1933A>G NP_000635.2:p.Thr645Ala
NM_000645.2:c.1882A>G NP_000636.2:p.Thr628Ala
NM_000646.2:c.1885A>G NP_000637.2:p.Thr629Ala
XM_005270557.1:c.1933A>G XP_005270614.1:p.Thr645Ala
XM_005270557.2:c.1933A>G XP_005270614.1:p.Thr645Ala
XM_017000501.2:c.193A>G XP_016855990.1:p.Thr65Ala
NM_000642.3:c.1933A>G MANE Select NP_000633.2:p.Thr645Ala
Search 100 bp 5'
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