Canonical Allele Identifier: CA273996

Gene: AGL

Linked Data

• ClinVar Variation Id: 188818
• ClinVar RCV Id: RCV000169156
• dbSNP Id: rs786204489
• gnomAD v2: 1-100327070-C-T
• gnomAD v3: 1-99861514-C-T
• gnomAD v4: 1-99861514-C-T
• MyVariant Identifiers: chr1:g.100327070C>T (hg19) ; chr1:g.99861514C>T (hg38)
• PubMed: PMID:10655153 ; PMID:11949933 ; PMID:11977176

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99861514C>T , CM000663.2:g.99861514C>T	GRCh38
NC_000001.10:g.100327070C>T , CM000663.1:g.100327070C>T	GRCh37
NC_000001.9:g.100099658C>T	NCBI36
NG_012865.1:g.16431C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.94C>T MANE Select	ENSP00000355106.3:p.Gln32Ter
ENST00000637337.1:n.305C>T
ENST00000294724.8:c.94C>T	ENSP00000294724.4:p.Gln32Ter
ENST00000361302.7:c.46C>T	ENSP00000354971.3:p.Gln16Ter
ENST00000361522.4:c.43C>T	ENSP00000354635.4:p.Gln15Ter
ENST00000361915.7:c.94C>T	ENSP00000355106.3:p.Gln32Ter
ENST00000370161.6:c.46C>T	ENSP00000359180.2:p.Gln16Ter
ENST00000370163.7:c.94C>T	ENSP00000359182.3:p.Gln32Ter
ENST00000370165.7:c.94C>T	ENSP00000359184.3:p.Gln32Ter
NM_000028.2:c.94C>T	NP_000019.2:p.Gln32Ter
NM_000642.2:c.94C>T	NP_000633.2:p.Gln32Ter
NM_000643.2:c.94C>T	NP_000634.2:p.Gln32Ter
NM_000644.2:c.94C>T	NP_000635.2:p.Gln32Ter
NM_000645.2:c.43C>T	NP_000636.2:p.Gln15Ter
NM_000646.2:c.46C>T	NP_000637.2:p.Gln16Ter
XM_005270557.1:c.94C>T	XP_005270614.1:p.Gln32Ter
XM_005270557.2:c.94C>T	XP_005270614.1:p.Gln32Ter
NM_000642.3:c.94C>T MANE Select	NP_000633.2:p.Gln32Ter