Canonical Allele Identifier: CA68179049
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs530059202
gnomAD v3: 2-240873361-G-A
gnomAD v4: 2-240873361-G-A
MyVariant Identifiers: chr2:g.241812778G>A (hg19) chr2:g.240873361G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873361G>A , CM000664.2:g.240873361G>A GRCh38
NC_000002.11:g.241812778G>A , CM000664.1:g.241812778G>A GRCh37
NC_000002.10:g.241461451G>A NCBI36
NG_008005.1:g.9617G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.595+312G>A MANE Select ENSP00000302620.3:n.595+312G>A
ENST00000307503.3:c.595+312G>A ENSP00000302620.3:n.595+312G>A
ENST00000472436.1:n.927G>A
ENST00000476698.1:n.332+312G>A
NM_000030.2:c.595+312G>A NP_000021.1:n.595+312G>A
NM_000030.3:c.595+312G>A MANE Select NP_000021.1:n.595+312G>A
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