Canonical Allele Identifier: CA966640

Gene: AGL

Linked Data

• ClinVar Variation Id: 658683
• ClinVar RCV Id: RCV000815549
• dbSNP Id: rs372501843
• ExAC: 1:100346641 G / A
• gnomAD v2: 1-100346641-G-A
• gnomAD v3: 1-99881085-G-A
• gnomAD v4: 1-99881085-G-A
• MyVariant Identifiers: chr1:g.100346641G>A (hg19) ; chr1:g.99881085G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99881085G>A , CM000663.2:g.99881085G>A	GRCh38
NC_000001.10:g.100346641G>A , CM000663.1:g.100346641G>A	GRCh37
NC_000001.9:g.100119229G>A	NCBI36
NG_012865.1:g.36002G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.1909G>A MANE Select	ENSP00000355106.3:p.Ala637Thr
ENST00000637337.1:n.2120G>A
ENST00000294724.8:c.1909G>A	ENSP00000294724.4:p.Ala637Thr
ENST00000361302.7:c.1861G>A	ENSP00000354971.3:p.Ala621Thr
ENST00000361522.4:c.1858G>A	ENSP00000354635.4:p.Ala620Thr
ENST00000361915.7:c.1909G>A	ENSP00000355106.3:p.Ala637Thr
ENST00000370161.6:c.1861G>A	ENSP00000359180.2:p.Ala621Thr
ENST00000370163.7:c.1909G>A	ENSP00000359182.3:p.Ala637Thr
ENST00000370165.7:c.1909G>A	ENSP00000359184.3:p.Ala637Thr
NM_000028.2:c.1909G>A	NP_000019.2:p.Ala637Thr
NM_000642.2:c.1909G>A	NP_000633.2:p.Ala637Thr
NM_000643.2:c.1909G>A	NP_000634.2:p.Ala637Thr
NM_000644.2:c.1909G>A	NP_000635.2:p.Ala637Thr
NM_000645.2:c.1858G>A	NP_000636.2:p.Ala620Thr
NM_000646.2:c.1861G>A	NP_000637.2:p.Ala621Thr
XM_005270557.1:c.1909G>A	XP_005270614.1:p.Ala637Thr
XM_005270557.2:c.1909G>A	XP_005270614.1:p.Ala637Thr
XM_017000501.2:c.169G>A	XP_016855990.1:p.Ala57Thr
NM_000642.3:c.1909G>A MANE Select	NP_000633.2:p.Ala637Thr