Canonical Allele Identifier: CA967261

Gene: AGL

Linked Data

• ClinVar Variation Id: 1084562
• ClinVar RCV Id: RCV001401634
• dbSNP Id: rs574183079
• ExAC: 1:100378042 C / T
• gnomAD v2: 1-100378042-C-T
• gnomAD v3: 1-99912486-C-T
• gnomAD v4: 1-99912486-C-T
• MyVariant Identifiers: chr1:g.100378042C>T (hg19) ; chr1:g.99912486C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99912486C>T , CM000663.2:g.99912486C>T	GRCh38
NC_000001.10:g.100378042C>T , CM000663.1:g.100378042C>T	GRCh37
NC_000001.9:g.100150630C>T	NCBI36
NG_012865.1:g.67403C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.3918C>T MANE Select	ENSP00000355106.3:p.Phe1306=
ENST00000637337.1:n.4129C>T
ENST00000294724.8:c.3918C>T	ENSP00000294724.4:p.Phe1306=
ENST00000361302.7:c.3870C>T	ENSP00000354971.3:p.Phe1290=
ENST00000361522.4:c.3867C>T	ENSP00000354635.4:p.Phe1289=
ENST00000361915.7:c.3918C>T	ENSP00000355106.3:p.Phe1306=
ENST00000370161.6:c.3870C>T	ENSP00000359180.2:p.Phe1290=
ENST00000370163.7:c.3918C>T	ENSP00000359182.3:p.Phe1306=
ENST00000370165.7:c.3918C>T	ENSP00000359184.3:p.Phe1306=
NM_000028.2:c.3918C>T	NP_000019.2:p.Phe1306=
NM_000642.2:c.3918C>T	NP_000633.2:p.Phe1306=
NM_000643.2:c.3918C>T	NP_000634.2:p.Phe1306=
NM_000644.2:c.3918C>T	NP_000635.2:p.Phe1306=
NM_000645.2:c.3867C>T	NP_000636.2:p.Phe1289=
NM_000646.2:c.3870C>T	NP_000637.2:p.Phe1290=
XM_005270557.1:c.3918C>T	XP_005270614.1:p.Phe1306=
XM_005270557.2:c.3918C>T	XP_005270614.1:p.Phe1306=
XM_017000501.2:c.2178C>T	XP_016855990.1:p.Phe726=
NM_000642.3:c.3918C>T MANE Select	NP_000633.2:p.Phe1306=