Canonical Allele Identifier: CA766964083
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1238972037
gnomAD v3: 2-240873862-G-A
gnomAD v4: 2-240873862-G-A
MyVariant Identifiers: chr2:g.241813279G>A (hg19) chr2:g.240873862G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873862G>A , CM000664.2:g.240873862G>A GRCh38
NC_000002.11:g.241813279G>A , CM000664.1:g.241813279G>A GRCh37
NC_000002.10:g.241461952G>A NCBI36
NG_008005.1:g.10118G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.596-116G>A MANE Select ENSP00000302620.3:n.596-116G>A
ENST00000307503.3:c.596-116G>A ENSP00000302620.3:n.596-116G>A
ENST00000476698.1:n.332+813G>A
NM_000030.2:c.596-116G>A NP_000021.1:n.596-116G>A
NM_000030.3:c.596-116G>A MANE Select NP_000021.1:n.596-116G>A
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