Canonical Allele Identifier: CA966003

Gene: AGL

Linked Data

• ClinVar Variation Id: 1399786
• ClinVar RCV Id: RCV001924999
• dbSNP Id: rs762204351
• ExAC: 1:100316662 C / G
• gnomAD v2: 1-100316662-C-G
• gnomAD v4: 1-99851106-C-G
• MyVariant Identifiers: chr1:g.100316662C>G (hg19) ; chr1:g.99851106C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99851106C>G , CM000663.2:g.99851106C>G	GRCh38
NC_000001.10:g.100316662C>G , CM000663.1:g.100316662C>G	GRCh37
NC_000001.9:g.100089250C>G	NCBI36
NG_012865.1:g.6023C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.64C>G MANE Select	ENSP00000355106.3:p.Leu22Val
ENST00000294724.8:c.64C>G	ENSP00000294724.4:p.Leu22Val
ENST00000361302.7:c.-128C>G	ENSP00000354971.3:n.-128C>G
ENST00000361915.7:c.64C>G	ENSP00000355106.3:p.Leu22Val
ENST00000370163.7:c.64C>G	ENSP00000359182.3:p.Leu22Val
ENST00000370165.7:c.64C>G	ENSP00000359184.3:p.Leu22Val
NM_000028.2:c.64C>G	NP_000019.2:p.Leu22Val
NM_000642.2:c.64C>G	NP_000633.2:p.Leu22Val
NM_000643.2:c.64C>G	NP_000634.2:p.Leu22Val
NM_000644.2:c.64C>G	NP_000635.2:p.Leu22Val
NM_000646.2:c.-128C>G	NP_000637.2:n.-128C>G
XM_005270557.1:c.64C>G	XP_005270614.1:p.Leu22Val
XM_005270557.2:c.64C>G	XP_005270614.1:p.Leu22Val
NM_000642.3:c.64C>G MANE Select	NP_000633.2:p.Leu22Val