Canonical Allele Identifier: CA2646736016
Gene: AGL HGNC NCBI

Linked Data

gnomAD v4: 1-99850916-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99850916C>T , CM000663.2:g.99850916C>T GRCh38
NC_000001.10:g.100316472C>T , CM000663.1:g.100316472C>T GRCh37
NC_000001.9:g.100089060C>T NCBI36
NG_012865.1:g.5833C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.-68-59C>T MANE Select ENSP00000355106.3:n.-68-59C>T
ENST00000294724.8:c.-69+18C>T ENSP00000294724.4:n.-69+18C>T
ENST00000361915.7:c.-68-59C>T ENSP00000355106.3:n.-68-59C>T
ENST00000370163.7:c.-68-59C>T ENSP00000359182.3:n.-68-59C>T
ENST00000370165.7:c.-8-119C>T ENSP00000359184.3:n.-8-119C>T
NM_000028.2:c.-69+18C>T NP_000019.2:n.-69+18C>T
NM_000642.2:c.-68-59C>T NP_000633.2:n.-68-59C>T
NM_000643.2:c.-68-59C>T NP_000634.2:n.-68-59C>T
NM_000644.2:c.-8-119C>T NP_000635.2:n.-8-119C>T
XM_005270557.1:c.-68-59C>T XP_005270614.1:n.-68-59C>T
XM_005270557.2:c.-68-59C>T XP_005270614.1:n.-68-59C>T
NM_000642.3:c.-68-59C>T MANE Select NP_000633.2:n.-68-59C>T