Canonical Allele Identifier: CA1044068514
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2059004878
gnomAD v3: 2-240873817-C-T
gnomAD v4: 2-240873817-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873817C>T , CM000664.2:g.240873817C>T GRCh38
NC_000002.11:g.241813234C>T , CM000664.1:g.241813234C>T GRCh37
NC_000002.10:g.241461907C>T NCBI36
NG_008005.1:g.10073C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.596-161C>T MANE Select ENSP00000302620.3:n.596-161C>T
ENST00000307503.3:c.596-161C>T ENSP00000302620.3:n.596-161C>T
ENST00000476698.1:n.332+768C>T
NM_000030.2:c.596-161C>T NP_000021.1:n.596-161C>T
NM_000030.3:c.596-161C>T MANE Select NP_000021.1:n.596-161C>T
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