Canonical Allele Identifier: CA27541303
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 526602
ClinVar RCV Id: RCV000631163
dbSNP Id: rs777686689

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99902705T>C , CM000663.2:g.99902705T>C GRCh38
NC_000001.10:g.100368261T>C , CM000663.1:g.100368261T>C GRCh37
NC_000001.9:g.100140849T>C NCBI36
NG_012865.1:g.57622T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.3611T>C MANE Select ENSP00000355106.3:p.Ile1204Thr
ENST00000637337.1:n.3822T>C
ENST00000294724.8:c.3611T>C ENSP00000294724.4:p.Ile1204Thr
ENST00000361302.7:c.3563T>C ENSP00000354971.3:p.Ile1188Thr
ENST00000361522.4:c.3560T>C ENSP00000354635.4:p.Ile1187Thr
ENST00000361915.7:c.3611T>C ENSP00000355106.3:p.Ile1204Thr
ENST00000370161.6:n.3563T>C ENSP00000359180.2:p.Ile1188Thr
ENST00000370163.7:c.3611T>C ENSP00000359182.3:p.Ile1204Thr
ENST00000370165.7:c.3611T>C ENSP00000359184.3:p.Ile1204Thr
NM_000028.2:c.3611T>C NP_000019.2:p.Ile1204Thr
NM_000642.2:c.3611T>C NP_000633.2:p.Ile1204Thr
NM_000643.2:c.3611T>C NP_000634.2:p.Ile1204Thr
NM_000644.2:c.3611T>C NP_000635.2:p.Ile1204Thr
NM_000645.2:c.3560T>C NP_000636.2:p.Ile1187Thr
NM_000646.2:c.3563T>C NP_000637.2:p.Ile1188Thr
XM_005270557.1:c.3611T>C XP_005270614.1:p.Ile1204Thr
XM_005270557.2:c.3611T>C XP_005270614.1:p.Ile1204Thr
XM_017000501.2:c.1871T>C XP_016855990.1:p.Ile624Thr
NM_000642.3:c.3611T>C MANE Select NP_000633.2:p.Ile1204Thr