Canonical Allele Identifier: CA419096417

Gene: AGL

Linked Data

• ClinVar Variation Id: 1355250
• ClinVar RCV Id: RCV001888002
• dbSNP Id: rs1296061982
• gnomAD v2: 1-100336026-A-G
• gnomAD v4: 1-99870470-A-G
• MyVariant Identifiers: chr1:g.100336026A>G (hg19) ; chr1:g.99870470A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99870470A>G , CM000663.2:g.99870470A>G	GRCh38
NC_000001.10:g.100336026A>G , CM000663.1:g.100336026A>G	GRCh37
NC_000001.9:g.100108614A>G	NCBI36
NG_012865.1:g.25387A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.735A>G MANE Select	ENSP00000355106.3:p.Lys245=
ENST00000637337.1:n.946A>G
ENST00000294724.8:c.735A>G	ENSP00000294724.4:p.Lys245=
ENST00000361302.7:c.687A>G	ENSP00000354971.3:p.Lys229=
ENST00000361522.4:c.684A>G	ENSP00000354635.4:p.Lys228=
ENST00000361915.7:c.735A>G	ENSP00000355106.3:p.Lys245=
ENST00000370161.6:c.687A>G	ENSP00000359180.2:p.Lys229=
ENST00000370163.7:c.735A>G	ENSP00000359182.3:p.Lys245=
ENST00000370165.7:c.735A>G	ENSP00000359184.3:p.Lys245=
NM_000028.2:c.735A>G	NP_000019.2:p.Lys245=
NM_000642.2:c.735A>G	NP_000633.2:p.Lys245=
NM_000643.2:c.735A>G	NP_000634.2:p.Lys245=
NM_000644.2:c.735A>G	NP_000635.2:p.Lys245=
NM_000645.2:c.684A>G	NP_000636.2:p.Lys228=
NM_000646.2:c.687A>G	NP_000637.2:p.Lys229=
XM_005270557.1:c.735A>G	XP_005270614.1:p.Lys245=
XM_005270557.2:c.735A>G	XP_005270614.1:p.Lys245=
NM_000642.3:c.735A>G MANE Select	NP_000633.2:p.Lys245=