Canonical Allele Identifier: CA1044068323
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2059002367
gnomAD v3: 2-240873401-A-T
gnomAD v4: 2-240873401-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873401A>T , CM000664.2:g.240873401A>T GRCh38
NC_000002.11:g.241812818A>T , CM000664.1:g.241812818A>T GRCh37
NC_000002.10:g.241461491A>T NCBI36
NG_008005.1:g.9657A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.595+352A>T MANE Select ENSP00000302620.3:n.595+352A>T
ENST00000307503.3:c.595+352A>T ENSP00000302620.3:n.595+352A>T
ENST00000472436.1:n.967A>T
ENST00000476698.1:n.332+352A>T
NM_000030.2:c.595+352A>T NP_000021.1:n.595+352A>T
NM_000030.3:c.595+352A>T MANE Select NP_000021.1:n.595+352A>T
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