Canonical Allele Identifier: CA351316889
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240874013C>A , CM000664.2:g.240874013C>A GRCh38
NC_000002.11:g.241813430C>A , CM000664.1:g.241813430C>A GRCh37
NC_000002.10:g.241462103C>A NCBI36
NG_008005.1:g.10269C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.631C>A MANE Select ENSP00000302620.3:p.Leu211Met
ENST00000307503.3:c.631C>A ENSP00000302620.3:p.Leu211Met
ENST00000476698.1:n.332+964C>A
NM_000030.2:c.631C>A NP_000021.1:p.Leu211Met
NM_000030.3:c.631C>A MANE Select NP_000021.1:p.Leu211Met