Canonical Allele Identifier: CA966265
Gene: AGL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.99870502G>A
GRCh37 chr1:g.100336058G>A
Revel Score:
ENST00000361915 (MANE Select) 0.233
ENST00000370165 0.233
ENST00000370163 0.233
ENST00000294724 0.233
ENST00000361302 0.233
ENST00000370161 0.233
ENST00000361522 0.233
gnomAD v2:
1:100336058 G / A
gnomAD v3:
1:99870502 G / A
gnomAD v4:
chr1-99870502-G-A
Joint Max Group AF 0.00007912 (NFE)
Genomes Max Group AF 0.00003763 (NFE)
Exomes Max Group AF 0.00007949 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99870502G>A , CM000663.2:g.99870502G>A GRCh38
NC_000001.10:g.100336058G>A , CM000663.1:g.100336058G>A GRCh37
NC_000001.9:g.100108646G>A NCBI36
NG_012865.1:g.25419G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.767G>A MANE Select ENSP00000355106.3:p.Arg256His
ENST00000637337.1:n.978G>A
ENST00000294724.8:c.767G>A ENSP00000294724.4:p.Arg256His
ENST00000361302.7:c.719G>A ENSP00000354971.3:p.Arg240His
ENST00000361522.4:c.716G>A ENSP00000354635.4:p.Arg239His
ENST00000361915.7:c.767G>A ENSP00000355106.3:p.Arg256His
ENST00000370161.6:c.719G>A ENSP00000359180.2:p.Arg240His
ENST00000370163.7:c.767G>A ENSP00000359182.3:p.Arg256His
ENST00000370165.7:c.767G>A ENSP00000359184.3:p.Arg256His
NM_000028.2:c.767G>A NP_000019.2:p.Arg256His
NM_000642.2:c.767G>A NP_000633.2:p.Arg256His
NM_000643.2:c.767G>A NP_000634.2:p.Arg256His
NM_000644.2:c.767G>A NP_000635.2:p.Arg256His
NM_000645.2:c.716G>A NP_000636.2:p.Arg239His
NM_000646.2:c.719G>A NP_000637.2:p.Arg240His
XM_005270557.1:c.767G>A XP_005270614.1:p.Arg256His
XM_005270557.2:c.767G>A XP_005270614.1:p.Arg256His
NM_000642.3:c.767G>A MANE Select NP_000633.2:p.Arg256His
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