Canonical Allele Identifier: CA351319574
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878083T>A , CM000664.2:g.240878083T>A GRCh38
NC_000002.11:g.241817500T>A , CM000664.1:g.241817500T>A GRCh37
NC_000002.10:g.241466173T>A NCBI36
NG_008005.1:g.14339T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1004T>A MANE Select ENSP00000302620.3:p.Ile335Asn
ENST00000307503.3:c.1004T>A ENSP00000302620.3:p.Ile335Asn
ENST00000470255.1:n.782T>A
NM_000030.2:c.1004T>A NP_000021.1:p.Ile335Asn
NM_000030.3:c.1004T>A MANE Select NP_000021.1:p.Ile335Asn