Canonical Allele Identifier: CA274226

Gene: AGL

Linked Data

• ClinVar Variation Id: 188994
• ClinVar RCV Id: RCV000169374 ; RCV000585987
• dbSNP Id: rs370792293
• ExAC: 1:100330148 A / G
• gnomAD v2: 1-100330148-A-G
• gnomAD v3: 1-99864592-A-G
• gnomAD v4: 1-99864592-A-G
• MyVariant Identifiers: chr1:g.100330148A>G (hg19) ; chr1:g.99864592A>G (hg38)
• PubMed: PMID:12442284 ; PMID:16705713 ; PMID:21691223 ; PMID:26913919

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99864592A>G , CM000663.2:g.99864592A>G	GRCh38
NC_000001.10:g.100330148A>G , CM000663.1:g.100330148A>G	GRCh37
NC_000001.9:g.100102736A>G	NCBI36
NG_012865.1:g.19509A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.664+3A>G MANE Select	ENSP00000355106.3:n.664+3A>G
ENST00000637337.1:n.875+3A>G
ENST00000294724.8:c.664+3A>G	ENSP00000294724.4:n.664+3A>G
ENST00000361302.7:c.616+3A>G	ENSP00000354971.3:n.616+3A>G
ENST00000361522.4:c.613+3A>G	ENSP00000354635.4:n.613+3A>G
ENST00000361915.7:c.664+3A>G	ENSP00000355106.3:n.664+3A>G
ENST00000370161.6:c.616+3A>G	ENSP00000359180.2:n.616+3A>G
ENST00000370163.7:c.664+3A>G	ENSP00000359182.3:n.664+3A>G
ENST00000370165.7:c.664+3A>G	ENSP00000359184.3:n.664+3A>G
NM_000028.2:c.664+3A>G	NP_000019.2:n.664+3A>G
NM_000642.2:c.664+3A>G	NP_000633.2:n.664+3A>G
NM_000643.2:c.664+3A>G	NP_000634.2:n.664+3A>G
NM_000644.2:c.664+3A>G	NP_000635.2:n.664+3A>G
NM_000645.2:c.613+3A>G	NP_000636.2:n.613+3A>G
NM_000646.2:c.616+3A>G	NP_000637.2:n.616+3A>G
XM_005270557.1:c.664+3A>G	XP_005270614.1:n.664+3A>G
XM_005270557.2:c.664+3A>G	XP_005270614.1:n.664+3A>G
NM_000642.3:c.664+3A>G MANE Select	NP_000633.2:n.664+3A>G