Canonical Allele Identifier: CA967362

Gene: AGL

Linked Data

• ClinVar Variation Id: 1105
• ClinVar RCV Id: RCV000001164 ; RCV000991301 ; RCV001558704
• dbSNP Id: rs780504025
• ExAC: 1:100381047 G / A
• gnomAD v2: 1-100381047-G-A
• gnomAD v4: 1-99915491-G-A
• MyVariant Identifiers: chr1:g.100381047G>A (hg19) ; chr1:g.99915491G>A (hg38)
• PubMed: PMID:10925384

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99915491G>A , CM000663.2:g.99915491G>A	GRCh38
NC_000001.10:g.100381047G>A , CM000663.1:g.100381047G>A	GRCh37
NC_000001.9:g.100153635G>A	NCBI36
NG_012865.1:g.70408G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.4259+5G>A MANE Select	ENSP00000355106.3:n.4259+5G>A
ENST00000637337.1:n.4470+5G>A
ENST00000294724.8:c.4259+5G>A	ENSP00000294724.4:n.4259+5G>A
ENST00000361302.7:c.4211+5G>A	ENSP00000354971.3:n.4211+5G>A
ENST00000361522.4:c.4208+5G>A	ENSP00000354635.4:n.4208+5G>A
ENST00000361915.7:c.4259+5G>A	ENSP00000355106.3:n.4259+5G>A
ENST00000370161.6:c.4211+5G>A	ENSP00000359180.2:n.4211+5G>A
ENST00000370163.7:c.4259+5G>A	ENSP00000359182.3:n.4259+5G>A
ENST00000370165.7:c.4259+5G>A	ENSP00000359184.3:n.4259+5G>A
NM_000028.2:c.4259+5G>A	NP_000019.2:n.4259+5G>A
NM_000642.2:c.4259+5G>A	NP_000633.2:n.4259+5G>A
NM_000643.2:c.4259+5G>A	NP_000634.2:n.4259+5G>A
NM_000644.2:c.4259+5G>A	NP_000635.2:n.4259+5G>A
NM_000645.2:c.4208+5G>A	NP_000636.2:n.4208+5G>A
NM_000646.2:c.4211+5G>A	NP_000637.2:n.4211+5G>A
XM_005270557.1:c.4259+5G>A	XP_005270614.1:n.4259+5G>A
XR_947626.1:n.1318-2274C>T
XR_947627.1:n.1207-2274C>T
XR_947628.1:n.1312-2274C>T
XR_947630.1:n.1250-2274C>T
XR_947632.1:n.1136-2274C>T
XR_947633.1:n.1247-2274C>T
XR_947634.1:n.661-2274C>T
XR_947635.1:n.729-2274C>T
XM_005270557.2:c.4259+5G>A	XP_005270614.1:n.4259+5G>A
XM_017000501.2:c.2519+5G>A	XP_016855990.1:n.2519+5G>A
NM_000642.3:c.4259+5G>A MANE Select	NP_000633.2:n.4259+5G>A