Canonical Allele Identifier: CA967213

Gene: AGL

Linked Data

• ClinVar Variation Id: 1010037
• ClinVar RCV Id: RCV001307610
• dbSNP Id: rs771249925
• ExAC: 1:100376350 T / G
• gnomAD v2: 1-100376350-T-G
• gnomAD v4: 1-99910794-T-G
• MyVariant Identifiers: chr1:g.100376350T>G (hg19) ; chr1:g.99910794T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99910794T>G , CM000663.2:g.99910794T>G	GRCh38
NC_000001.10:g.100376350T>G , CM000663.1:g.100376350T>G	GRCh37
NC_000001.9:g.100148938T>G	NCBI36
NG_012865.1:g.65711T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.3783T>G MANE Select	ENSP00000355106.3:p.Asp1261Glu
ENST00000637337.1:n.3994T>G
ENST00000294724.8:c.3783T>G	ENSP00000294724.4:p.Asp1261Glu
ENST00000361302.7:c.3735T>G	ENSP00000354971.3:p.Asp1245Glu
ENST00000361522.4:c.3732T>G	ENSP00000354635.4:p.Asp1244Glu
ENST00000361915.7:c.3783T>G	ENSP00000355106.3:p.Asp1261Glu
ENST00000370161.6:c.3735T>G	ENSP00000359180.2:p.Asp1245Glu
ENST00000370163.7:c.3783T>G	ENSP00000359182.3:p.Asp1261Glu
ENST00000370165.7:c.3783T>G	ENSP00000359184.3:p.Asp1261Glu
NM_000028.2:c.3783T>G	NP_000019.2:p.Asp1261Glu
NM_000642.2:c.3783T>G	NP_000633.2:p.Asp1261Glu
NM_000643.2:c.3783T>G	NP_000634.2:p.Asp1261Glu
NM_000644.2:c.3783T>G	NP_000635.2:p.Asp1261Glu
NM_000645.2:c.3732T>G	NP_000636.2:p.Asp1244Glu
NM_000646.2:c.3735T>G	NP_000637.2:p.Asp1245Glu
XM_005270557.1:c.3783T>G	XP_005270614.1:p.Asp1261Glu
XM_005270557.2:c.3783T>G	XP_005270614.1:p.Asp1261Glu
XM_017000501.2:c.2043T>G	XP_016855990.1:p.Asp681Glu
NM_000642.3:c.3783T>G MANE Select	NP_000633.2:p.Asp1261Glu