Canonical Allele Identifier: CA351319543
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878069T>A , CM000664.2:g.240878069T>A GRCh38
NC_000002.11:g.241817486T>A , CM000664.1:g.241817486T>A GRCh37
NC_000002.10:g.241466159T>A NCBI36
NG_008005.1:g.14325T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.990T>A MANE Select ENSP00000302620.3:p.Tyr330Ter
ENST00000307503.3:c.990T>A ENSP00000302620.3:p.Tyr330Ter
ENST00000470255.1:n.768T>A
NM_000030.2:c.990T>A NP_000021.1:p.Tyr330Ter
NM_000030.3:c.990T>A MANE Select NP_000021.1:p.Tyr330Ter