Canonical Allele Identifier: CA341337975

Gene: AGL

Linked Data

• ClinVar Variation Id: 2124867
• ClinVar RCV Id: RCV003039831
• gnomAD v4: 1-99910816-G-A
• MyVariant Identifiers: chr1:g.100376372G>A (hg19) ; chr1:g.99910816G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99910816G>A , CM000663.2:g.99910816G>A	GRCh38
NC_000001.10:g.100376372G>A , CM000663.1:g.100376372G>A	GRCh37
NC_000001.9:g.100148960G>A	NCBI36
NG_012865.1:g.65733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.3805G>A MANE Select	ENSP00000355106.3:p.Ala1269Thr
ENST00000637337.1:n.4016G>A
ENST00000294724.8:c.3805G>A	ENSP00000294724.4:p.Ala1269Thr
ENST00000361302.7:c.3757G>A	ENSP00000354971.3:p.Ala1253Thr
ENST00000361522.4:c.3754G>A	ENSP00000354635.4:p.Ala1252Thr
ENST00000361915.7:c.3805G>A	ENSP00000355106.3:p.Ala1269Thr
ENST00000370161.6:c.3757G>A	ENSP00000359180.2:p.Ala1253Thr
ENST00000370163.7:c.3805G>A	ENSP00000359182.3:p.Ala1269Thr
ENST00000370165.7:c.3805G>A	ENSP00000359184.3:p.Ala1269Thr
NM_000028.2:c.3805G>A	NP_000019.2:p.Ala1269Thr
NM_000642.2:c.3805G>A	NP_000633.2:p.Ala1269Thr
NM_000643.2:c.3805G>A	NP_000634.2:p.Ala1269Thr
NM_000644.2:c.3805G>A	NP_000635.2:p.Ala1269Thr
NM_000645.2:c.3754G>A	NP_000636.2:p.Ala1252Thr
NM_000646.2:c.3757G>A	NP_000637.2:p.Ala1253Thr
XM_005270557.1:c.3805G>A	XP_005270614.1:p.Ala1269Thr
XM_005270557.2:c.3805G>A	XP_005270614.1:p.Ala1269Thr
XM_017000501.2:c.2065G>A	XP_016855990.1:p.Ala689Thr
NM_000642.3:c.3805G>A MANE Select	NP_000633.2:p.Ala1269Thr