Canonical Allele Identifier: CA2664006473
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240869458-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869458T>G , CM000664.2:g.240869458T>G GRCh38
NC_000002.11:g.241808875T>G , CM000664.1:g.241808875T>G GRCh37
NC_000002.10:g.241457548T>G NCBI36
NG_008005.1:g.5714T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.358+96T>G MANE Select ENSP00000302620.3:n.358+96T>G
ENST00000307503.3:c.358+96T>G ENSP00000302620.3:n.358+96T>G
ENST00000472436.1:n.378+96T>G
NM_000030.2:c.358+96T>G NP_000021.1:n.358+96T>G
XR_924060.1:n.405+775A>C
NM_000030.3:c.358+96T>G MANE Select NP_000021.1:n.358+96T>G
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