Canonical Allele Identifier: CA2664006484
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240873411-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873411T>C , CM000664.2:g.240873411T>C GRCh38
NC_000002.11:g.241812828T>C , CM000664.1:g.241812828T>C GRCh37
NC_000002.10:g.241461501T>C NCBI36
NG_008005.1:g.9667T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.595+362T>C MANE Select ENSP00000302620.3:n.595+362T>C
ENST00000307503.3:c.595+362T>C ENSP00000302620.3:n.595+362T>C
ENST00000472436.1:n.977T>C
ENST00000476698.1:n.332+362T>C
NM_000030.2:c.595+362T>C NP_000021.1:n.595+362T>C
NM_000030.3:c.595+362T>C MANE Select NP_000021.1:n.595+362T>C
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