Canonical Allele Identifier: CA351319880
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878801T>A , CM000664.2:g.240878801T>A GRCh38
NC_000002.11:g.241818218T>A , CM000664.1:g.241818218T>A GRCh37
NC_000002.10:g.241466891T>A NCBI36
NG_008005.1:g.15057T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.1159T>A MANE Select ENSP00000302620.3:p.Cys387Ser
ENST00000307503.3:c.1159T>A ENSP00000302620.3:p.Cys387Ser
ENST00000470255.1:n.937T>A
NM_000030.2:c.1159T>A NP_000021.1:p.Cys387Ser
NM_000030.3:c.1159T>A MANE Select NP_000021.1:p.Cys387Ser