Canonical Allele Identifier: CA351319115
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877562A>G , CM000664.2:g.240877562A>G GRCh38
NC_000002.11:g.241816979A>G , CM000664.1:g.241816979A>G GRCh37
NC_000002.10:g.241465652A>G NCBI36
NG_008005.1:g.13818A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.872A>G MANE Select ENSP00000302620.3:p.His291Arg
ENST00000307503.3:c.872A>G ENSP00000302620.3:p.His291Arg
ENST00000470255.1:n.650A>G
NM_000030.2:c.872A>G NP_000021.1:p.His291Arg
NM_000030.3:c.872A>G MANE Select NP_000021.1:p.His291Arg