Canonical Allele Identifier: CA1339331092
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2058979806
gnomAD v4: 2-240869478-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869478G>A , CM000664.2:g.240869478G>A GRCh38
NC_000002.11:g.241808895G>A , CM000664.1:g.241808895G>A GRCh37
NC_000002.10:g.241457568G>A NCBI36
NG_008005.1:g.5734G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.358+116G>A MANE Select ENSP00000302620.3:n.358+116G>A
ENST00000307503.3:c.358+116G>A ENSP00000302620.3:n.358+116G>A
ENST00000472436.1:n.378+116G>A
NM_000030.2:c.358+116G>A NP_000021.1:n.358+116G>A
XR_924060.1:n.405+755C>T
NM_000030.3:c.358+116G>A MANE Select NP_000021.1:n.358+116G>A
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