Canonical Allele Identifier: CA1339335222
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1575711822
gnomAD v4: 2-240877037-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877037A>G , CM000664.2:g.240877037A>G GRCh38
NC_000002.11:g.241816454A>G , CM000664.1:g.241816454A>G GRCh37
NC_000002.10:g.241465127A>G NCBI36
NG_008005.1:g.13293A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.847-500A>G MANE Select ENSP00000302620.3:n.847-500A>G
ENST00000307503.3:c.847-500A>G ENSP00000302620.3:n.847-500A>G
ENST00000470255.1:n.125A>G
NM_000030.2:c.847-500A>G NP_000021.1:n.847-500A>G
NM_000030.3:c.847-500A>G MANE Select NP_000021.1:n.847-500A>G
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