Canonical Allele Identifier: CA419314508
Gene: AGL HGNC NCBI

Linked Data

gnomAD v4: 1-99891347-T-A
MyVariant Identifiers: chr1:g.100356903T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99891347T>A , CM000663.2:g.99891347T>A GRCh38
NC_000001.10:g.100356903T>A , CM000663.1:g.100356903T>A GRCh37
NC_000001.9:g.100129491T>A NCBI36
NG_012865.1:g.46264T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.2940T>A MANE Select ENSP00000355106.3:p.Thr980=
ENST00000637337.1:n.3151T>A
ENST00000294724.8:c.2940T>A ENSP00000294724.4:p.Thr980=
ENST00000361302.7:c.2892T>A ENSP00000354971.3:p.Thr964=
ENST00000361522.4:c.2889T>A ENSP00000354635.4:p.Thr963=
ENST00000361915.7:c.2940T>A ENSP00000355106.3:p.Thr980=
ENST00000370161.6:c.2892T>A ENSP00000359180.2:p.Thr964=
ENST00000370163.7:c.2940T>A ENSP00000359182.3:p.Thr980=
ENST00000370165.7:c.2940T>A ENSP00000359184.3:p.Thr980=
NM_000028.2:c.2940T>A NP_000019.2:p.Thr980=
NM_000642.2:c.2940T>A NP_000633.2:p.Thr980=
NM_000643.2:c.2940T>A NP_000634.2:p.Thr980=
NM_000644.2:c.2940T>A NP_000635.2:p.Thr980=
NM_000645.2:c.2889T>A NP_000636.2:p.Thr963=
NM_000646.2:c.2892T>A NP_000637.2:p.Thr964=
XM_005270557.1:c.2940T>A XP_005270614.1:p.Thr980=
XM_005270557.2:c.2940T>A XP_005270614.1:p.Thr980=
XM_017000501.2:c.1200T>A XP_016855990.1:p.Thr400=
NM_000642.3:c.2940T>A MANE Select NP_000633.2:p.Thr980=