Canonical Allele Identifier: CA419081011

Gene: AGL

Linked Data

• ClinVar Variation Id: 788690
• ClinVar RCV Id: RCV000971169
• dbSNP Id: rs1570443640
• gnomAD v3: 1-99880738-A-G
• gnomAD v4: 1-99880738-A-G
• MyVariant Identifiers: chr1:g.100346294A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99880738A>G , CM000663.2:g.99880738A>G	GRCh38
NC_000001.10:g.100346294A>G , CM000663.1:g.100346294A>G	GRCh37
NC_000001.9:g.100118882A>G	NCBI36
NG_012865.1:g.35655A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.1842A>G MANE Select	ENSP00000355106.3:p.Pro614=
ENST00000637337.1:n.2053A>G
ENST00000294724.8:c.1842A>G	ENSP00000294724.4:p.Pro614=
ENST00000361302.7:c.1794A>G	ENSP00000354971.3:p.Pro598=
ENST00000361522.4:c.1791A>G	ENSP00000354635.4:p.Pro597=
ENST00000361915.7:c.1842A>G	ENSP00000355106.3:p.Pro614=
ENST00000370161.6:c.1794A>G	ENSP00000359180.2:p.Pro598=
ENST00000370163.7:c.1842A>G	ENSP00000359182.3:p.Pro614=
ENST00000370165.7:c.1842A>G	ENSP00000359184.3:p.Pro614=
NM_000028.2:c.1842A>G	NP_000019.2:p.Pro614=
NM_000642.2:c.1842A>G	NP_000633.2:p.Pro614=
NM_000643.2:c.1842A>G	NP_000634.2:p.Pro614=
NM_000644.2:c.1842A>G	NP_000635.2:p.Pro614=
NM_000645.2:c.1791A>G	NP_000636.2:p.Pro597=
NM_000646.2:c.1794A>G	NP_000637.2:p.Pro598=
XM_005270557.1:c.1842A>G	XP_005270614.1:p.Pro614=
XM_005270557.2:c.1842A>G	XP_005270614.1:p.Pro614=
XM_017000501.2:c.102A>G	XP_016855990.1:p.Pro34=
NM_000642.3:c.1842A>G MANE Select	NP_000633.2:p.Pro614=