Canonical Allele Identifier: CA966202
Gene: AGL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.99864440G>C
GRCh37 chr1:g.100329996G>C
Revel Score:
ENST00000361915 (MANE Select) 0.272
ENST00000370165 0.272
ENST00000370163 0.272
ENST00000294724 0.272
ENST00000361302 0.272
ENST00000370161 0.272
ENST00000361522 0.272
gnomAD v2:
1:100329996 G / C
gnomAD v3:
1:99864440 G / C
gnomAD v4:
chr1-99864440-G-C
Joint Max Group AF 0.00015405 (EAS)
Exomes Max Group AF 0.00015518 (EAS)
ClinVar RCV:
RCV000353923
RCV002519358
ClinVar Variation:
291325
dbSNP:
766234642
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99864440G>C , CM000663.2:g.99864440G>C GRCh38
NC_000001.10:g.100329996G>C , CM000663.1:g.100329996G>C GRCh37
NC_000001.9:g.100102584G>C NCBI36
NG_012865.1:g.19357G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.515G>C MANE Select ENSP00000355106.3:p.Cys172Ser
ENST00000637337.1:n.726G>C
ENST00000294724.8:c.515G>C ENSP00000294724.4:p.Cys172Ser
ENST00000361302.7:c.467G>C ENSP00000354971.3:p.Cys156Ser
ENST00000361522.4:c.464G>C ENSP00000354635.4:p.Cys155Ser
ENST00000361915.7:c.515G>C ENSP00000355106.3:p.Cys172Ser
ENST00000370161.6:c.467G>C ENSP00000359180.2:p.Cys156Ser
ENST00000370163.7:c.515G>C ENSP00000359182.3:p.Cys172Ser
ENST00000370165.7:c.515G>C ENSP00000359184.3:p.Cys172Ser
NM_000028.2:c.515G>C NP_000019.2:p.Cys172Ser
NM_000642.2:c.515G>C NP_000633.2:p.Cys172Ser
NM_000643.2:c.515G>C NP_000634.2:p.Cys172Ser
NM_000644.2:c.515G>C NP_000635.2:p.Cys172Ser
NM_000645.2:c.464G>C NP_000636.2:p.Cys155Ser
NM_000646.2:c.467G>C NP_000637.2:p.Cys156Ser
XM_005270557.1:c.515G>C XP_005270614.1:p.Cys172Ser
XM_005270557.2:c.515G>C XP_005270614.1:p.Cys172Ser
NM_000642.3:c.515G>C MANE Select NP_000633.2:p.Cys172Ser
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