Canonical Allele Identifier: CA2697552552

Gene: AGL

Linked Data

• ClinVar Variation Id: 2764002
• ClinVar RCV Id: RCV003517656

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99916397A>G , CM000663.2:g.99916397A>G	GRCh38
NC_000001.10:g.100381953A>G , CM000663.1:g.100381953A>G	GRCh37
NC_000001.9:g.100154541A>G	NCBI36
NG_012865.1:g.71314A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.4260-13A>G MANE Select	ENSP00000355106.3:n.4260-13A>G
ENST00000637337.1:n.4471-13A>G
ENST00000294724.8:c.4260-13A>G	ENSP00000294724.4:n.4260-13A>G
ENST00000361302.7:c.4212-13A>G	ENSP00000354971.3:n.4212-13A>G
ENST00000361522.4:c.4209-13A>G	ENSP00000354635.4:n.4209-13A>G
ENST00000361915.7:c.4260-13A>G	ENSP00000355106.3:n.4260-13A>G
ENST00000370161.6:c.4212-13A>G	ENSP00000359180.2:n.4212-13A>G
ENST00000370163.7:c.4260-13A>G	ENSP00000359182.3:n.4260-13A>G
ENST00000370165.7:c.4260-13A>G	ENSP00000359184.3:n.4260-13A>G
NM_000028.2:c.4260-13A>G	NP_000019.2:n.4260-13A>G
NM_000642.2:c.4260-13A>G	NP_000633.2:n.4260-13A>G
NM_000643.2:c.4260-13A>G	NP_000634.2:n.4260-13A>G
NM_000644.2:c.4260-13A>G	NP_000635.2:n.4260-13A>G
NM_000645.2:c.4209-13A>G	NP_000636.2:n.4209-13A>G
NM_000646.2:c.4212-13A>G	NP_000637.2:n.4212-13A>G
XM_005270557.1:c.4260-13A>G	XP_005270614.1:n.4260-13A>G
XR_947626.1:n.1318-3180T>C
XR_947627.1:n.1207-3180T>C
XR_947628.1:n.1312-3180T>C
XR_947630.1:n.1250-3180T>C
XR_947632.1:n.1136-3180T>C
XR_947633.1:n.1247-3180T>C
XR_947634.1:n.661-3180T>C
XR_947635.1:n.729-3180T>C
XM_005270557.2:c.4260-13A>G	XP_005270614.1:n.4260-13A>G
XM_017000501.2:c.2520-13A>G	XP_016855990.1:n.2520-13A>G
NM_000642.3:c.4260-13A>G MANE Select	NP_000633.2:n.4260-13A>G