Canonical Allele Identifier: CA2664005966
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240873176-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873176A>C , CM000664.2:g.240873176A>C GRCh38
NC_000002.11:g.241812593A>C , CM000664.1:g.241812593A>C GRCh37
NC_000002.10:g.241461266A>C NCBI36
NG_008005.1:g.9432A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.595+127A>C MANE Select ENSP00000302620.3:n.595+127A>C
ENST00000307503.3:c.595+127A>C ENSP00000302620.3:n.595+127A>C
ENST00000472436.1:n.742A>C
ENST00000476698.1:n.332+127A>C
NM_000030.2:c.595+127A>C NP_000021.1:n.595+127A>C
NM_000030.3:c.595+127A>C MANE Select NP_000021.1:n.595+127A>C
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