Canonical Allele Identifier: CA341343544
Gene: AGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99921563C>T , CM000663.2:g.99921563C>T GRCh38
NC_000001.10:g.100387119C>T , CM000663.1:g.100387119C>T GRCh37
NC_000001.9:g.100159707C>T NCBI36
NG_012865.1:g.76480C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.4511C>T MANE Select ENSP00000355106.3:p.Thr1504Ile
ENST00000637337.1:n.4722C>T
ENST00000294724.8:c.4511C>T ENSP00000294724.4:p.Thr1504Ile
ENST00000361302.7:c.4463C>T ENSP00000354971.3:p.Thr1488Ile
ENST00000361522.4:c.4460C>T ENSP00000354635.4:p.Thr1487Ile
ENST00000361915.7:c.4511C>T ENSP00000355106.3:p.Thr1504Ile
ENST00000370161.6:c.4463C>T ENSP00000359180.2:p.Thr1488Ile
ENST00000370163.7:c.4511C>T ENSP00000359182.3:p.Thr1504Ile
ENST00000370165.7:c.4511C>T ENSP00000359184.3:p.Thr1504Ile
NM_000028.2:c.4511C>T NP_000019.2:p.Thr1504Ile
NM_000642.2:c.4511C>T NP_000633.2:p.Thr1504Ile
NM_000643.2:c.4511C>T NP_000634.2:p.Thr1504Ile
NM_000644.2:c.4511C>T NP_000635.2:p.Thr1504Ile
NM_000645.2:c.4460C>T NP_000636.2:p.Thr1487Ile
NM_000646.2:c.4463C>T NP_000637.2:p.Thr1488Ile
XM_005270557.1:c.4511C>T XP_005270614.1:p.Thr1504Ile
XR_947626.1:n.1317+2675G>A
XR_947627.1:n.1206+2675G>A
XR_947628.1:n.1311+2675G>A
XR_947630.1:n.1249+2675G>A
XR_947632.1:n.1135+2675G>A
XR_947633.1:n.1246+2675G>A
XR_947634.1:n.660+2675G>A
XR_947635.1:n.728+2675G>A
XM_005270557.2:c.4511C>T XP_005270614.1:p.Thr1504Ile
XM_017000501.2:c.2771C>T XP_016855990.1:p.Thr924Ile
NM_000642.3:c.4511C>T MANE Select NP_000633.2:p.Thr1504Ile