Canonical Allele Identifier: CA114753

Gene: AGL

Linked Data

• ClinVar Variation Id: 1095
• ClinVar RCV Id: RCV000001153 ; RCV000020373 ; RCV000675315
• dbSNP Id: rs113994126
• ExAC: 1:100316614 C / T
• gnomAD v2: 1-100316614-C-T
• gnomAD v3: 1-99851058-C-T
• gnomAD v4: 1-99851058-C-T
• MyVariant Identifiers: chr1:g.100316614C>T (hg19) ; chr1:g.100316614_100316616delinsTAG (hg19) ; chr1:g.99851058C>T (hg38) ; chr1:g.99851058_99851060delinsTAG (hg38)
• PubMed: PMID:8755644 ; PMID:20301788 ; PMID:20648714 ; PMID:23430490

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99851058C>T , CM000663.2:g.99851058C>T	GRCh38
NC_000001.10:g.100316614C>T , CM000663.1:g.100316614C>T	GRCh37
NC_000001.9:g.100089202C>T	NCBI36
NG_012865.1:g.5975C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.16C>T MANE Select	ENSP00000355106.3:p.Gln6Ter
ENST00000294724.8:c.16C>T	ENSP00000294724.4:p.Gln6Ter
ENST00000361302.7:c.-176C>T	ENSP00000354971.3:n.-176C>T
ENST00000361915.7:c.16C>T	ENSP00000355106.3:p.Gln6Ter
ENST00000370163.7:c.16C>T	ENSP00000359182.3:p.Gln6Ter
ENST00000370165.7:c.16C>T	ENSP00000359184.3:p.Gln6Ter
NM_000028.2:c.16C>T	NP_000019.2:p.Gln6Ter
NM_000642.2:c.16C>T	NP_000633.2:p.Gln6Ter
NM_000643.2:c.16C>T	NP_000634.2:p.Gln6Ter
NM_000644.2:c.16C>T	NP_000635.2:p.Gln6Ter
NM_000646.2:c.-176C>T	NP_000637.2:n.-176C>T
XM_005270557.1:c.16C>T	XP_005270614.1:p.Gln6Ter
XM_005270557.2:c.16C>T	XP_005270614.1:p.Gln6Ter
NM_000642.3:c.16C>T MANE Select	NP_000633.2:p.Gln6Ter