Canonical Allele Identifier: CA351318077
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875142C>G , CM000664.2:g.240875142C>G GRCh38
NC_000002.11:g.241814559C>G , CM000664.1:g.241814559C>G GRCh37
NC_000002.10:g.241463232C>G NCBI36
NG_008005.1:g.11398C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.714C>G MANE Select ENSP00000302620.3:p.Phe238Leu
ENST00000307503.3:c.714C>G ENSP00000302620.3:p.Phe238Leu
ENST00000476698.1:n.366C>G
NM_000030.2:c.714C>G NP_000021.1:p.Phe238Leu
NM_000030.3:c.714C>G MANE Select NP_000021.1:p.Phe238Leu