Canonical Allele Identifier: CA351316834
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240874001T>A , CM000664.2:g.240874001T>A GRCh38
NC_000002.11:g.241813418T>A , CM000664.1:g.241813418T>A GRCh37
NC_000002.10:g.241462091T>A NCBI36
NG_008005.1:g.10257T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.619T>A MANE Select ENSP00000302620.3:p.Ser207Thr
ENST00000307503.3:c.619T>A ENSP00000302620.3:p.Ser207Thr
ENST00000476698.1:n.332+952T>A
NM_000030.2:c.619T>A NP_000021.1:p.Ser207Thr
NM_000030.3:c.619T>A MANE Select NP_000021.1:p.Ser207Thr