Canonical Allele Identifier: CA1339330559
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2058973111
gnomAD v3: 2-240868511-C-G
gnomAD v4: 2-240868511-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868511C>G , CM000664.2:g.240868511C>G GRCh38
NC_000002.11:g.241807928C>G , CM000664.1:g.241807928C>G GRCh37
NC_000002.10:g.241456601C>G NCBI36
NG_008005.1:g.4767C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.3:c.-355C>G ENSP00000302620.3:n.-355C>G
XR_924060.1:n.405+1722G>C
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