Canonical Allele Identifier: CA114761
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 1102
ClinVar RCV Id: RCV000001161
dbSNP Id: rs118203964

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99916492G>C , CM000663.2:g.99916492G>C GRCh38
NC_000001.10:g.100382048G>C , CM000663.1:g.100382048G>C GRCh37
NC_000001.9:g.100154636G>C NCBI36
NG_012865.1:g.71409G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.4342G>C MANE Select ENSP00000355106.3:p.Gly1448Arg
ENST00000637337.1:n.4553G>C
ENST00000294724.8:c.4342G>C ENSP00000294724.4:p.Gly1448Arg
ENST00000361302.7:c.4294G>C ENSP00000354971.3:p.Gly1432Arg
ENST00000361522.4:c.4291G>C ENSP00000354635.4:p.Gly1431Arg
ENST00000361915.7:c.4342G>C ENSP00000355106.3:p.Gly1448Arg
ENST00000370161.6:c.4294G>C ENSP00000359180.2:p.Gly1432Arg
ENST00000370163.7:c.4342G>C ENSP00000359182.3:p.Gly1448Arg
ENST00000370165.7:c.4342G>C ENSP00000359184.3:p.Gly1448Arg
NM_000028.2:c.4342G>C NP_000019.2:p.Gly1448Arg
NM_000642.2:c.4342G>C NP_000633.2:p.Gly1448Arg
NM_000643.2:c.4342G>C NP_000634.2:p.Gly1448Arg
NM_000644.2:c.4342G>C NP_000635.2:p.Gly1448Arg
NM_000645.2:c.4291G>C NP_000636.2:p.Gly1431Arg
NM_000646.2:c.4294G>C NP_000637.2:p.Gly1432Arg
XM_005270557.1:c.4342G>C XP_005270614.1:p.Gly1448Arg
XR_947626.1:n.1318-3275C>G
XR_947627.1:n.1207-3275C>G
XR_947628.1:n.1312-3275C>G
XR_947630.1:n.1250-3275C>G
XR_947632.1:n.1136-3275C>G
XR_947633.1:n.1247-3275C>G
XR_947634.1:n.661-3275C>G
XR_947635.1:n.729-3275C>G
XM_005270557.2:c.4342G>C XP_005270614.1:p.Gly1448Arg
XM_017000501.2:c.2602G>C XP_016855990.1:p.Gly868Arg
NM_000642.3:c.4342G>C MANE Select NP_000633.2:p.Gly1448Arg