Canonical Allele Identifier: CA419089227
Community Standard Title: NM_000642.3(AGL):c.60G>A (p.Lys20=)
Gene: AGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99851102G>A , CM000663.2:g.99851102G>A GRCh38
NC_000001.10:g.100316658G>A , CM000663.1:g.100316658G>A GRCh37
NC_000001.9:g.100089246G>A NCBI36
NG_012865.1:g.6019G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000642.3:c.60G>A MANE Select NP_000633.2:p.Lys20=
ENST00000361915.8:c.60G>A MANE Select ENSP00000355106.3:p.Lys20=
NM_000028.2:c.60G>A NP_000019.2:p.Lys20=
NM_000642.2:c.60G>A NP_000633.2:p.Lys20=
NM_000643.2:c.60G>A NP_000634.2:p.Lys20=
NM_000644.2:c.60G>A NP_000635.2:p.Lys20=
NM_000646.2:c.-132G>A NP_000637.2:n.-132G>A
ENST00000294724.8:c.60G>A ENSP00000294724.4:p.Lys20=
ENST00000361302.7:c.-132G>A ENSP00000354971.3:n.-132G>A
ENST00000361915.7:c.60G>A ENSP00000355106.3:p.Lys20=
ENST00000370163.7:c.60G>A ENSP00000359182.3:p.Lys20=
ENST00000370165.7:c.60G>A ENSP00000359184.3:p.Lys20=
XM_005270557.1:c.60G>A XP_005270614.1:p.Lys20=
XM_005270557.2:c.60G>A XP_005270614.1:p.Lys20=