Canonical Allele Identifier: CA351319085
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877550G>A , CM000664.2:g.240877550G>A GRCh38
NC_000002.11:g.241816967G>A , CM000664.1:g.241816967G>A GRCh37
NC_000002.10:g.241465640G>A NCBI36
NG_008005.1:g.13806G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.860G>A MANE Select ENSP00000302620.3:p.Ser287Asn
ENST00000307503.3:c.860G>A ENSP00000302620.3:p.Ser287Asn
ENST00000470255.1:n.638G>A
NM_000030.2:c.860G>A NP_000021.1:p.Ser287Asn
NM_000030.3:c.860G>A MANE Select NP_000021.1:p.Ser287Asn