Canonical Allele Identifier: CA16040818
Gene: AGL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.99851064C>T
GRCh37 chr1:g.100316620C>T
gnomAD v3:
1:99851064 C / T
gnomAD v4:
chr1-99851064-C-T
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000410062
ClinVar Variation:
370924
dbSNP:
1057516870
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99851064C>T , CM000663.2:g.99851064C>T GRCh38
NC_000001.10:g.100316620C>T , CM000663.1:g.100316620C>T GRCh37
NC_000001.9:g.100089208C>T NCBI36
NG_012865.1:g.5981C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.22C>T MANE Select ENSP00000355106.3:p.Arg8Ter
ENST00000294724.8:c.22C>T ENSP00000294724.4:p.Arg8Ter
ENST00000361302.7:c.-170C>T ENSP00000354971.3:n.-170C>T
ENST00000361915.7:c.22C>T ENSP00000355106.3:p.Arg8Ter
ENST00000370163.7:c.22C>T ENSP00000359182.3:p.Arg8Ter
ENST00000370165.7:c.22C>T ENSP00000359184.3:p.Arg8Ter
NM_000028.2:c.22C>T NP_000019.2:p.Arg8Ter
NM_000642.2:c.22C>T NP_000633.2:p.Arg8Ter
NM_000643.2:c.22C>T NP_000634.2:p.Arg8Ter
NM_000644.2:c.22C>T NP_000635.2:p.Arg8Ter
NM_000646.2:c.-170C>T NP_000637.2:n.-170C>T
XM_005270557.1:c.22C>T XP_005270614.1:p.Arg8Ter
XM_005270557.2:c.22C>T XP_005270614.1:p.Arg8Ter
NM_000642.3:c.22C>T MANE Select NP_000633.2:p.Arg8Ter
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