Canonical Allele Identifier: CA341318709
Gene: AGL HGNC NCBI

Linked Data

gnomAD v4: 1-99881330-G-A
MyVariant Identifiers: chr1:g.100346886G>A (hg19) chr1:g.99881330G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99881330G>A , CM000663.2:g.99881330G>A GRCh38
NC_000001.10:g.100346886G>A , CM000663.1:g.100346886G>A GRCh37
NC_000001.9:g.100119474G>A NCBI36
NG_012865.1:g.36247G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.2040G>A MANE Select ENSP00000355106.3:p.Trp680Ter
ENST00000637337.1:n.2251G>A
ENST00000294724.8:c.2040G>A ENSP00000294724.4:p.Trp680Ter
ENST00000361302.7:c.1992G>A ENSP00000354971.3:p.Trp664Ter
ENST00000361522.4:c.1989G>A ENSP00000354635.4:p.Trp663Ter
ENST00000361915.7:c.2040G>A ENSP00000355106.3:p.Trp680Ter
ENST00000370161.6:c.1992G>A ENSP00000359180.2:p.Trp664Ter
ENST00000370163.7:c.2040G>A ENSP00000359182.3:p.Trp680Ter
ENST00000370165.7:c.2040G>A ENSP00000359184.3:p.Trp680Ter
NM_000028.2:c.2040G>A NP_000019.2:p.Trp680Ter
NM_000642.2:c.2040G>A NP_000633.2:p.Trp680Ter
NM_000643.2:c.2040G>A NP_000634.2:p.Trp680Ter
NM_000644.2:c.2040G>A NP_000635.2:p.Trp680Ter
NM_000645.2:c.1989G>A NP_000636.2:p.Trp663Ter
NM_000646.2:c.1992G>A NP_000637.2:p.Trp664Ter
XM_005270557.1:c.2040G>A XP_005270614.1:p.Trp680Ter
XM_005270557.2:c.2040G>A XP_005270614.1:p.Trp680Ter
XM_017000501.2:c.300G>A XP_016855990.1:p.Trp100Ter
NM_000642.3:c.2040G>A MANE Select NP_000633.2:p.Trp680Ter
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