Canonical Allele Identifier: CA966264
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 581236
ClinVar RCV Id: RCV000704999
dbSNP Id: rs757347826
gnomAD v3: 1-99870501-C-T
gnomAD v4: 1-99870501-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99870501C>T , CM000663.2:g.99870501C>T GRCh38
NC_000001.10:g.100336057C>T , CM000663.1:g.100336057C>T GRCh37
NC_000001.9:g.100108645C>T NCBI36
NG_012865.1:g.25418C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.766C>T MANE Select ENSP00000355106.3:p.Arg256Cys
ENST00000637337.1:n.977C>T
ENST00000294724.8:c.766C>T ENSP00000294724.4:p.Arg256Cys
ENST00000361302.7:c.718C>T ENSP00000354971.3:p.Arg240Cys
ENST00000361522.4:c.715C>T ENSP00000354635.4:p.Arg239Cys
ENST00000361915.7:c.766C>T ENSP00000355106.3:p.Arg256Cys
ENST00000370161.6:c.718C>T ENSP00000359180.2:p.Arg240Cys
ENST00000370163.7:c.766C>T ENSP00000359182.3:p.Arg256Cys
ENST00000370165.7:c.766C>T ENSP00000359184.3:p.Arg256Cys
NM_000028.2:c.766C>T NP_000019.2:p.Arg256Cys
NM_000642.2:c.766C>T NP_000633.2:p.Arg256Cys
NM_000643.2:c.766C>T NP_000634.2:p.Arg256Cys
NM_000644.2:c.766C>T NP_000635.2:p.Arg256Cys
NM_000645.2:c.715C>T NP_000636.2:p.Arg239Cys
NM_000646.2:c.718C>T NP_000637.2:p.Arg240Cys
XM_005270557.1:c.766C>T XP_005270614.1:p.Arg256Cys
XM_005270557.2:c.766C>T XP_005270614.1:p.Arg256Cys
NM_000642.3:c.766C>T MANE Select NP_000633.2:p.Arg256Cys