Canonical Allele Identifier: CA2646736041
Gene: AGL HGNC NCBI

Linked Data

gnomAD v4: 1-99850947-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99850947G>C , CM000663.2:g.99850947G>C GRCh38
NC_000001.10:g.100316503G>C , CM000663.1:g.100316503G>C GRCh37
NC_000001.9:g.100089091G>C NCBI36
NG_012865.1:g.5864G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.-68-28G>C MANE Select ENSP00000355106.3:n.-68-28G>C
ENST00000294724.8:c.-68-28G>C ENSP00000294724.4:n.-68-28G>C
ENST00000361915.7:c.-68-28G>C ENSP00000355106.3:n.-68-28G>C
ENST00000370163.7:c.-68-28G>C ENSP00000359182.3:n.-68-28G>C
ENST00000370165.7:c.-8-88G>C ENSP00000359184.3:n.-8-88G>C
NM_000028.2:c.-68-28G>C NP_000019.2:n.-68-28G>C
NM_000642.2:c.-68-28G>C NP_000633.2:n.-68-28G>C
NM_000643.2:c.-68-28G>C NP_000634.2:n.-68-28G>C
NM_000644.2:c.-8-88G>C NP_000635.2:n.-8-88G>C
XM_005270557.1:c.-68-28G>C XP_005270614.1:n.-68-28G>C
XM_005270557.2:c.-68-28G>C XP_005270614.1:n.-68-28G>C
NM_000642.3:c.-68-28G>C MANE Select NP_000633.2:n.-68-28G>C