Canonical Allele Identifier: CA68173277
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1005916276
gnomAD v2: 2-241808005-G-A
gnomAD v3: 2-240868588-G-A
gnomAD v4: 2-240868588-G-A
MyVariant Identifiers: chr2:g.241808005G>A (hg19) chr2:g.240868588G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868588G>A , CM000664.2:g.240868588G>A GRCh38
NC_000002.11:g.241808005G>A , CM000664.1:g.241808005G>A GRCh37
NC_000002.10:g.241456678G>A NCBI36
NG_008005.1:g.4844G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.3:c.-278G>A ENSP00000302620.3:n.-278G>A
XR_924060.1:n.405+1645C>T
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