Canonical Allele Identifier: CA351319497
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240878044-C-T
MyVariant Identifiers: chr2:g.241817461C>T (hg19) chr2:g.240878044C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878044C>T , CM000664.2:g.240878044C>T GRCh38
NC_000002.11:g.241817461C>T , CM000664.1:g.241817461C>T GRCh37
NC_000002.10:g.241466134C>T NCBI36
NG_008005.1:g.14300C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.965C>T MANE Select ENSP00000302620.3:p.Thr322Ile
ENST00000307503.3:c.965C>T ENSP00000302620.3:p.Thr322Ile
ENST00000470255.1:n.743C>T
NM_000030.2:c.965C>T NP_000021.1:p.Thr322Ile
NM_000030.3:c.965C>T MANE Select NP_000021.1:p.Thr322Ile
Search 100 bp 5'
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