Canonical Allele Identifier: CA766959713
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs927306355
gnomAD v3: 2-240868733-G-A
gnomAD v4: 2-240868733-G-A
MyVariant Identifiers: chr2:g.241808150G>A (hg19) chr2:g.240868733G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868733G>A , CM000664.2:g.240868733G>A GRCh38
NC_000002.11:g.241808150G>A , CM000664.1:g.241808150G>A GRCh37
NC_000002.10:g.241456823G>A NCBI36
NG_008005.1:g.4989G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.3:c.-133G>A ENSP00000302620.3:n.-133G>A
XR_924060.1:n.405+1500C>T
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