Canonical Allele Identifier: CA1339333636
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1559569981
gnomAD v4: 2-240874126-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240874126G>A , CM000664.2:g.240874126G>A GRCh38
NC_000002.11:g.241813543G>A , CM000664.1:g.241813543G>A GRCh37
NC_000002.10:g.241462216G>A NCBI36
NG_008005.1:g.10382G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.680+64G>A MANE Select ENSP00000302620.3:n.680+64G>A
ENST00000307503.3:c.680+64G>A ENSP00000302620.3:n.680+64G>A
ENST00000476698.1:n.333-983G>A
NM_000030.2:c.680+64G>A NP_000021.1:n.680+64G>A
NM_000030.3:c.680+64G>A MANE Select NP_000021.1:n.680+64G>A
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Search 100 bp 3'