Canonical Allele Identifier: CA16040838
Gene: AGL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370127
ClinVar RCV Id: RCV000409250
dbSNP Id: rs1057516254

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99884627C>T , CM000663.2:g.99884627C>T GRCh38
NC_000001.10:g.100350183C>T , CM000663.1:g.100350183C>T GRCh37
NC_000001.9:g.100122771C>T NCBI36
NG_012865.1:g.39544C>T

Transcript Alleles

HGVS Amino-acid change
NM_000028.2:c.2605C>T VV NP_000019.2:p.Gln869Ter
NM_000642.2:c.2605C>T VV NP_000633.2:p.Gln869Ter
NM_000643.2:c.2605C>T VV NP_000634.2:p.Gln869Ter
NM_000644.2:c.2605C>T VV NP_000635.2:p.Gln869Ter
NM_000645.2:c.2554C>T VV NP_000636.2:p.Gln852Ter
NM_000646.2:c.2557C>T VV NP_000637.2:p.Gln853Ter
XM_005270557.1:c.2605C>T XP_005270614.1:p.Gln869Ter
XM_005270557.2:c.2605C>T
XM_017000501.2:c.865C>T XP_016855990.1:p.Gln289Ter
NM_000642.3:c.2605C>T VV MANE Preferred
ENST00000294724.8:c.2605C>T ENSP00000294724.4:p.Gln869Ter
ENST00000361302.7:c.2557C>T ENSP00000354971.3:p.Gln853Ter
ENST00000361522.4:c.2554C>T ENSP00000354635.4:p.Gln852Ter
ENST00000361915.7:c.2605C>T ENSP00000355106.3:p.Gln869Ter
ENST00000370161.6:n.2557C>T ENSP00000359180.2:p.Gln853Ter
ENST00000370163.7:c.2605C>T ENSP00000359182.3:p.Gln869Ter
ENST00000370165.7:c.2605C>T ENSP00000359184.3:p.Gln869Ter