Canonical Allele Identifier: CA16040829

Gene: AGL

Linked Data

• ClinVar Variation Id: 371027
• ClinVar RCV Id: RCV000412479
• dbSNP Id: rs1057516948
• gnomAD v4: 1-99875257-G-A
• MyVariant Identifiers: chr1:g.100340813G>A (hg19) ; chr1:g.99875257G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99875257G>A , CM000663.2:g.99875257G>A	GRCh38
NC_000001.10:g.100340813G>A , CM000663.1:g.100340813G>A	GRCh37
NC_000001.9:g.100113401G>A	NCBI36
NG_012865.1:g.30174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.1185+1G>A MANE Select	ENSP00000355106.3:n.1185+1G>A
ENST00000637337.1:n.1396+1G>A
ENST00000294724.8:c.1185+1G>A	ENSP00000294724.4:n.1185+1G>A
ENST00000361302.7:c.1137+1G>A	ENSP00000354971.3:n.1137+1G>A
ENST00000361522.4:c.1134+1G>A	ENSP00000354635.4:n.1134+1G>A
ENST00000361915.7:c.1185+1G>A	ENSP00000355106.3:n.1185+1G>A
ENST00000370161.6:c.1137+1G>A	ENSP00000359180.2:n.1137+1G>A
ENST00000370163.7:c.1185+1G>A	ENSP00000359182.3:n.1185+1G>A
ENST00000370165.7:c.1185+1G>A	ENSP00000359184.3:n.1185+1G>A
ENST00000477753.1:n.444+1G>A
NM_000028.2:c.1185+1G>A	NP_000019.2:n.1185+1G>A
NM_000642.2:c.1185+1G>A	NP_000633.2:n.1185+1G>A
NM_000643.2:c.1185+1G>A	NP_000634.2:n.1185+1G>A
NM_000644.2:c.1185+1G>A	NP_000635.2:n.1185+1G>A
NM_000645.2:c.1134+1G>A	NP_000636.2:n.1134+1G>A
NM_000646.2:c.1137+1G>A	NP_000637.2:n.1137+1G>A
XM_005270557.1:c.1185+1G>A	XP_005270614.1:n.1185+1G>A
XM_005270557.2:c.1185+1G>A	XP_005270614.1:n.1185+1G>A
NM_000642.3:c.1185+1G>A MANE Select	NP_000633.2:n.1185+1G>A