Canonical Allele Identifier: CA351318382
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875979A>T , CM000664.2:g.240875979A>T GRCh38
NC_000002.11:g.241815396A>T , CM000664.1:g.241815396A>T GRCh37
NC_000002.10:g.241464069A>T NCBI36
NG_008005.1:g.12235A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.821A>T MANE Select ENSP00000302620.3:p.Glu274Val
ENST00000307503.3:c.821A>T ENSP00000302620.3:p.Glu274Val
ENST00000476698.1:n.473A>T
NM_000030.2:c.821A>T NP_000021.1:p.Glu274Val
NM_000030.3:c.821A>T MANE Select NP_000021.1:p.Glu274Val