Canonical Allele Identifier: CA766957728
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs6732985
gnomAD v3: 2-240877128-C-A
gnomAD v4: 2-240877128-C-A
MyVariant Identifiers: chr2:g.241816545C>A (hg19) chr2:g.240877128C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877128C>A , CM000664.2:g.240877128C>A GRCh38
NC_000002.11:g.241816545C>A , CM000664.1:g.241816545C>A GRCh37
NC_000002.10:g.241465218C>A NCBI36
NG_008005.1:g.13384C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.847-409C>A MANE Select ENSP00000302620.3:n.847-409C>A
ENST00000307503.3:c.847-409C>A ENSP00000302620.3:n.847-409C>A
ENST00000470255.1:n.216C>A
NM_000030.2:c.847-409C>A NP_000021.1:n.847-409C>A
NM_000030.3:c.847-409C>A MANE Select NP_000021.1:n.847-409C>A
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