Canonical Allele Identifier: CA351318087
Gene: AGXT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.241814561C>T (hg19) chr2:g.240875144C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875144C>T , CM000664.2:g.240875144C>T GRCh38
NC_000002.11:g.241814561C>T , CM000664.1:g.241814561C>T GRCh37
NC_000002.10:g.241463234C>T NCBI36
NG_008005.1:g.11400C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.716C>T MANE Select ENSP00000302620.3:p.Ser239Phe
ENST00000307503.3:c.716C>T ENSP00000302620.3:p.Ser239Phe
ENST00000476698.1:n.368C>T
NM_000030.2:c.716C>T NP_000021.1:p.Ser239Phe
NM_000030.3:c.716C>T MANE Select NP_000021.1:p.Ser239Phe
Search 100 bp 5'
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