Canonical Allele Identifier: CA432234668
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240869030-G-A
MyVariant Identifiers: chr2:g.241808447G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869030G>A , CM000664.2:g.240869030G>A GRCh38
NC_000002.11:g.241808447G>A , CM000664.1:g.241808447G>A GRCh37
NC_000002.10:g.241457120G>A NCBI36
NG_008005.1:g.5286G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.165G>A MANE Select ENSP00000302620.3:p.Gln55=
ENST00000307503.3:c.165G>A ENSP00000302620.3:p.Gln55=
ENST00000472436.1:n.185G>A
NM_000030.2:c.165G>A NP_000021.1:p.Gln55=
XR_924060.1:n.405+1203C>T
NM_000030.3:c.165G>A MANE Select NP_000021.1:p.Gln55=
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