Canonical Allele Identifier: CA341323018
Community Standard Title: NM_000642.3(AGL):c.2738C>A (p.Ser913Ter)
Gene: AGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99888034C>A , CM000663.2:g.99888034C>A GRCh38
NC_000001.10:g.100353590C>A , CM000663.1:g.100353590C>A GRCh37
NC_000001.9:g.100126178C>A NCBI36
NG_012865.1:g.42951C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000642.3:c.2738C>A MANE Select NP_000633.2:p.Ser913Ter
ENST00000361915.8:c.2738C>A MANE Select ENSP00000355106.3:p.Ser913Ter
NM_000028.2:c.2738C>A NP_000019.2:p.Ser913Ter
NM_000642.2:c.2738C>A NP_000633.2:p.Ser913Ter
NM_000643.2:c.2738C>A NP_000634.2:p.Ser913Ter
NM_000644.2:c.2738C>A NP_000635.2:p.Ser913Ter
NM_000645.2:c.2687C>A NP_000636.2:p.Ser896Ter
NM_000646.2:c.2690C>A NP_000637.2:p.Ser897Ter
ENST00000294724.8:c.2738C>A ENSP00000294724.4:p.Ser913Ter
ENST00000361302.7:c.2690C>A ENSP00000354971.3:p.Ser897Ter
ENST00000361522.4:c.2687C>A ENSP00000354635.4:p.Ser896Ter
ENST00000361915.7:c.2738C>A ENSP00000355106.3:p.Ser913Ter
ENST00000370161.6:c.2690C>A ENSP00000359180.2:p.Ser897Ter
ENST00000370163.7:c.2738C>A ENSP00000359182.3:p.Ser913Ter
ENST00000370165.7:c.2738C>A ENSP00000359184.3:p.Ser913Ter
ENST00000637337.1:n.2949C>A
XM_005270557.1:c.2738C>A XP_005270614.1:p.Ser913Ter
XM_005270557.2:c.2738C>A XP_005270614.1:p.Ser913Ter
XM_017000501.2:c.998C>A XP_016855990.1:p.Ser333Ter