Canonical Allele Identifier: CA766959693
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1460940497
gnomAD v3: 2-240868695-C-A
gnomAD v4: 2-240868695-C-A
MyVariant Identifiers: chr2:g.241808112C>A (hg19) chr2:g.240868695C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868695C>A , CM000664.2:g.240868695C>A GRCh38
NC_000002.11:g.241808112C>A , CM000664.1:g.241808112C>A GRCh37
NC_000002.10:g.241456785C>A NCBI36
NG_008005.1:g.4951C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.3:c.-171C>A ENSP00000302620.3:n.-171C>A
XR_924060.1:n.405+1538G>T
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