Canonical Allele Identifier: CA2646736044
Gene: AGL HGNC NCBI

Linked Data

gnomAD v4: 1-99850957-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99850957C>A , CM000663.2:g.99850957C>A GRCh38
NC_000001.10:g.100316513C>A , CM000663.1:g.100316513C>A GRCh37
NC_000001.9:g.100089101C>A NCBI36
NG_012865.1:g.5874C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.-68-18C>A MANE Select ENSP00000355106.3:n.-68-18C>A
ENST00000294724.8:c.-68-18C>A ENSP00000294724.4:n.-68-18C>A
ENST00000361915.7:c.-68-18C>A ENSP00000355106.3:n.-68-18C>A
ENST00000370163.7:c.-68-18C>A ENSP00000359182.3:n.-68-18C>A
ENST00000370165.7:c.-8-78C>A ENSP00000359184.3:n.-8-78C>A
NM_000028.2:c.-68-18C>A NP_000019.2:n.-68-18C>A
NM_000642.2:c.-68-18C>A NP_000633.2:n.-68-18C>A
NM_000643.2:c.-68-18C>A NP_000634.2:n.-68-18C>A
NM_000644.2:c.-8-78C>A NP_000635.2:n.-8-78C>A
XM_005270557.1:c.-68-18C>A XP_005270614.1:n.-68-18C>A
XM_005270557.2:c.-68-18C>A XP_005270614.1:n.-68-18C>A
NM_000642.3:c.-68-18C>A MANE Select NP_000633.2:n.-68-18C>A