Canonical Allele Identifier: CA966009

Gene: AGL

Linked Data

• ClinVar Variation Id: 291322
• ClinVar RCV Id: RCV000302697 ; RCV000424005 ; RCV000761670 ; RCV002518169 ; RCV003967812
• dbSNP Id: rs765098686
• ExAC: 1:100316684 A / C
• gnomAD v2: 1-100316684-A-C
• gnomAD v3: 1-99851128-A-C
• gnomAD v4: 1-99851128-A-C
• MyVariant Identifiers: chr1:g.100316684A>C (hg19) ; chr1:g.99851128A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99851128A>C , CM000663.2:g.99851128A>C	GRCh38
NC_000001.10:g.100316684A>C , CM000663.1:g.100316684A>C	GRCh37
NC_000001.9:g.100089272A>C	NCBI36
NG_012865.1:g.6045A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.82+4A>C MANE Select	ENSP00000355106.3:n.82+4A>C
ENST00000294724.8:c.82+4A>C	ENSP00000294724.4:n.82+4A>C
ENST00000361302.7:c.-110+4A>C	ENSP00000354971.3:n.-110+4A>C
ENST00000361915.7:c.82+4A>C	ENSP00000355106.3:n.82+4A>C
ENST00000370163.7:c.82+4A>C	ENSP00000359182.3:n.82+4A>C
ENST00000370165.7:c.82+4A>C	ENSP00000359184.3:n.82+4A>C
NM_000028.2:c.82+4A>C	NP_000019.2:n.82+4A>C
NM_000642.2:c.82+4A>C	NP_000633.2:n.82+4A>C
NM_000643.2:c.82+4A>C	NP_000634.2:n.82+4A>C
NM_000644.2:c.82+4A>C	NP_000635.2:n.82+4A>C
NM_000646.2:c.-110+4A>C	NP_000637.2:n.-110+4A>C
XM_005270557.1:c.82+4A>C	XP_005270614.1:n.82+4A>C
XM_005270557.2:c.82+4A>C	XP_005270614.1:n.82+4A>C
NM_000642.3:c.82+4A>C MANE Select	NP_000633.2:n.82+4A>C