Canonical Allele Identifier: CA351313831
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1227181854
gnomAD v4: 2-240869323-A-G
MyVariant Identifiers: chr2:g.241808740A>G (hg19) chr2:g.240869323A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869323A>G , CM000664.2:g.240869323A>G GRCh38
NC_000002.11:g.241808740A>G , CM000664.1:g.241808740A>G GRCh37
NC_000002.10:g.241457413A>G NCBI36
NG_008005.1:g.5579A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.319A>G MANE Select ENSP00000302620.3:p.Ile107Val
ENST00000307503.3:c.319A>G ENSP00000302620.3:p.Ile107Val
ENST00000472436.1:n.339A>G
NM_000030.2:c.319A>G NP_000021.1:p.Ile107Val
XR_924060.1:n.405+910T>C
NM_000030.3:c.319A>G MANE Select NP_000021.1:p.Ile107Val
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