Canonical Allele Identifier: CA1339333264
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1575709551
gnomAD v4: 2-240873379-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873379A>T , CM000664.2:g.240873379A>T GRCh38
NC_000002.11:g.241812796A>T , CM000664.1:g.241812796A>T GRCh37
NC_000002.10:g.241461469A>T NCBI36
NG_008005.1:g.9635A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.595+330A>T MANE Select ENSP00000302620.3:n.595+330A>T
ENST00000307503.3:c.595+330A>T ENSP00000302620.3:n.595+330A>T
ENST00000472436.1:n.945A>T
ENST00000476698.1:n.332+330A>T
NM_000030.2:c.595+330A>T NP_000021.1:n.595+330A>T
NM_000030.3:c.595+330A>T MANE Select NP_000021.1:n.595+330A>T
Search 100 bp 5'
Search 100 bp 3'