Canonical Allele Identifier: CA351315536
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240871352-C-A
MyVariant Identifiers: chr2:g.241810769C>A (hg19) chr2:g.240871352C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240871352C>A , CM000664.2:g.240871352C>A GRCh38
NC_000002.11:g.241810769C>A , CM000664.1:g.241810769C>A GRCh37
NC_000002.10:g.241459442C>A NCBI36
NG_008005.1:g.7608C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.427C>A MANE Select ENSP00000302620.3:p.Leu143Met
ENST00000307503.3:c.427C>A ENSP00000302620.3:p.Leu143Met
ENST00000472436.1:n.447C>A
ENST00000476698.1:n.164C>A
NM_000030.2:c.427C>A NP_000021.1:p.Leu143Met
NM_000030.3:c.427C>A MANE Select NP_000021.1:p.Leu143Met
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