Canonical Allele Identifier: CA16040832
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 370531
ClinVar RCV Id: RCV000410795
dbSNP Id: rs1057516563
MyVariant Identifiers: chr1:g.100346234C>A (hg19) chr1:g.99880678C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99880678C>A , CM000663.2:g.99880678C>A GRCh38
NC_000001.10:g.100346234C>A , CM000663.1:g.100346234C>A GRCh37
NC_000001.9:g.100118822C>A NCBI36
NG_012865.1:g.35595C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.1782C>A MANE Select ENSP00000355106.3:p.Tyr594Ter
ENST00000637337.1:n.1993C>A
ENST00000294724.8:c.1782C>A ENSP00000294724.4:p.Tyr594Ter
ENST00000361302.7:c.1734C>A ENSP00000354971.3:p.Tyr578Ter
ENST00000361522.4:c.1731C>A ENSP00000354635.4:p.Tyr577Ter
ENST00000361915.7:c.1782C>A ENSP00000355106.3:p.Tyr594Ter
ENST00000370161.6:c.1734C>A ENSP00000359180.2:p.Tyr578Ter
ENST00000370163.7:c.1782C>A ENSP00000359182.3:p.Tyr594Ter
ENST00000370165.7:c.1782C>A ENSP00000359184.3:p.Tyr594Ter
NM_000028.2:c.1782C>A NP_000019.2:p.Tyr594Ter
NM_000642.2:c.1782C>A NP_000633.2:p.Tyr594Ter
NM_000643.2:c.1782C>A NP_000634.2:p.Tyr594Ter
NM_000644.2:c.1782C>A NP_000635.2:p.Tyr594Ter
NM_000645.2:c.1731C>A NP_000636.2:p.Tyr577Ter
NM_000646.2:c.1734C>A NP_000637.2:p.Tyr578Ter
XM_005270557.1:c.1782C>A XP_005270614.1:p.Tyr594Ter
XM_005270557.2:c.1782C>A XP_005270614.1:p.Tyr594Ter
XM_017000501.2:c.42C>A XP_016855990.1:p.Tyr14Ter
NM_000642.3:c.1782C>A MANE Select NP_000633.2:p.Tyr594Ter
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