Canonical Allele Identifier: CA2664006066
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240873255-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873255G>C , CM000664.2:g.240873255G>C GRCh38
NC_000002.11:g.241812672G>C , CM000664.1:g.241812672G>C GRCh37
NC_000002.10:g.241461345G>C NCBI36
NG_008005.1:g.9511G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.595+206G>C MANE Select ENSP00000302620.3:n.595+206G>C
ENST00000307503.3:c.595+206G>C ENSP00000302620.3:n.595+206G>C
ENST00000472436.1:n.821G>C
ENST00000476698.1:n.332+206G>C
NM_000030.2:c.595+206G>C NP_000021.1:n.595+206G>C
NM_000030.3:c.595+206G>C MANE Select NP_000021.1:n.595+206G>C
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