Canonical Allele Identifier: CA967401

Gene: AGL

Linked Data

• ClinVar Variation Id: 424906
• ClinVar RCV Id: RCV000487628 ; RCV001085587 ; RCV003925417
• dbSNP Id: rs143815159
• ExAC: 1:100382037 A / G
• gnomAD v2: 1-100382037-A-G
• gnomAD v3: 1-99916481-A-G
• gnomAD v4: 1-99916481-A-G
• MyVariant Identifiers: chr1:g.100382037A>G (hg19) ; chr1:g.99916481A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99916481A>G , CM000663.2:g.99916481A>G	GRCh38
NC_000001.10:g.100382037A>G , CM000663.1:g.100382037A>G	GRCh37
NC_000001.9:g.100154625A>G	NCBI36
NG_012865.1:g.71398A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.4331A>G MANE Select	ENSP00000355106.3:p.Asn1444Ser
ENST00000637337.1:n.4542A>G
ENST00000294724.8:c.4331A>G	ENSP00000294724.4:p.Asn1444Ser
ENST00000361302.7:c.4283A>G	ENSP00000354971.3:p.Asn1428Ser
ENST00000361522.4:c.4280A>G	ENSP00000354635.4:p.Asn1427Ser
ENST00000361915.7:c.4331A>G	ENSP00000355106.3:p.Asn1444Ser
ENST00000370161.6:c.4283A>G	ENSP00000359180.2:p.Asn1428Ser
ENST00000370163.7:c.4331A>G	ENSP00000359182.3:p.Asn1444Ser
ENST00000370165.7:c.4331A>G	ENSP00000359184.3:p.Asn1444Ser
NM_000028.2:c.4331A>G	NP_000019.2:p.Asn1444Ser
NM_000642.2:c.4331A>G	NP_000633.2:p.Asn1444Ser
NM_000643.2:c.4331A>G	NP_000634.2:p.Asn1444Ser
NM_000644.2:c.4331A>G	NP_000635.2:p.Asn1444Ser
NM_000645.2:c.4280A>G	NP_000636.2:p.Asn1427Ser
NM_000646.2:c.4283A>G	NP_000637.2:p.Asn1428Ser
XM_005270557.1:c.4331A>G	XP_005270614.1:p.Asn1444Ser
XR_947626.1:n.1318-3264T>C
XR_947627.1:n.1207-3264T>C
XR_947628.1:n.1312-3264T>C
XR_947630.1:n.1250-3264T>C
XR_947632.1:n.1136-3264T>C
XR_947633.1:n.1247-3264T>C
XR_947634.1:n.661-3264T>C
XR_947635.1:n.729-3264T>C
XM_005270557.2:c.4331A>G	XP_005270614.1:p.Asn1444Ser
XM_017000501.2:c.2591A>G	XP_016855990.1:p.Asn864Ser
NM_000642.3:c.4331A>G MANE Select	NP_000633.2:p.Asn1444Ser