Canonical Allele Identifier: CA10611691
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 291331
ClinVar RCV Id: RCV000339151
dbSNP Id: rs886044918
gnomAD v3: 1-99876446-A-C
gnomAD v4: 1-99876446-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99876446A>C , CM000663.2:g.99876446A>C GRCh38
NC_000001.10:g.100342002A>C , CM000663.1:g.100342002A>C GRCh37
NC_000001.9:g.100114590A>C NCBI36
NG_012865.1:g.31363A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.1284-12A>C MANE Select ENSP00000355106.3:n.1284-12A>C
ENST00000637337.1:n.1495-12A>C
ENST00000294724.8:c.1284-12A>C ENSP00000294724.4:n.1284-12A>C
ENST00000361302.7:c.1236-12A>C ENSP00000354971.3:n.1236-12A>C
ENST00000361522.4:c.1233-12A>C ENSP00000354635.4:n.1233-12A>C
ENST00000361915.7:c.1284-12A>C ENSP00000355106.3:n.1284-12A>C
ENST00000370161.6:c.1236-12A>C ENSP00000359180.2:n.1236-12A>C
ENST00000370163.7:c.1284-12A>C ENSP00000359182.3:n.1284-12A>C
ENST00000370165.7:c.1284-12A>C ENSP00000359184.3:n.1284-12A>C
ENST00000477753.1:n.543-12A>C
NM_000028.2:c.1284-12A>C NP_000019.2:n.1284-12A>C
NM_000642.2:c.1284-12A>C NP_000633.2:n.1284-12A>C
NM_000643.2:c.1284-12A>C NP_000634.2:n.1284-12A>C
NM_000644.2:c.1284-12A>C NP_000635.2:n.1284-12A>C
NM_000645.2:c.1233-12A>C NP_000636.2:n.1233-12A>C
NM_000646.2:c.1236-12A>C NP_000637.2:n.1236-12A>C
XM_005270557.1:c.1284-12A>C XP_005270614.1:n.1284-12A>C
XM_005270557.2:c.1284-12A>C XP_005270614.1:n.1284-12A>C
NM_000642.3:c.1284-12A>C MANE Select NP_000633.2:n.1284-12A>C