Canonical Allele Identifier: CA341323821
Community Standard Title: NM_000642.3(AGL):c.68T>A (p.Phe23Tyr)
Gene: AGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99851110T>A , CM000663.2:g.99851110T>A GRCh38
NC_000001.10:g.100316666T>A , CM000663.1:g.100316666T>A GRCh37
NC_000001.9:g.100089254T>A NCBI36
NG_012865.1:g.6027T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000642.3:c.68T>A MANE Select NP_000633.2:p.Phe23Tyr
ENST00000361915.8:c.68T>A MANE Select ENSP00000355106.3:p.Phe23Tyr
NM_000028.2:c.68T>A NP_000019.2:p.Phe23Tyr
NM_000642.2:c.68T>A NP_000633.2:p.Phe23Tyr
NM_000643.2:c.68T>A NP_000634.2:p.Phe23Tyr
NM_000644.2:c.68T>A NP_000635.2:p.Phe23Tyr
NM_000646.2:c.-124T>A NP_000637.2:n.-124T>A
ENST00000294724.8:c.68T>A ENSP00000294724.4:p.Phe23Tyr
ENST00000361302.7:c.-124T>A ENSP00000354971.3:n.-124T>A
ENST00000361915.7:c.68T>A ENSP00000355106.3:p.Phe23Tyr
ENST00000370163.7:c.68T>A ENSP00000359182.3:p.Phe23Tyr
ENST00000370165.7:c.68T>A ENSP00000359184.3:p.Phe23Tyr
XM_005270557.1:c.68T>A XP_005270614.1:p.Phe23Tyr
XM_005270557.2:c.68T>A XP_005270614.1:p.Phe23Tyr