Canonical Allele Identifier: CA351319862
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878792C>A , CM000664.2:g.240878792C>A GRCh38
NC_000002.11:g.241818209C>A , CM000664.1:g.241818209C>A GRCh37
NC_000002.10:g.241466882C>A NCBI36
NG_008005.1:g.15048C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1150C>A MANE Select ENSP00000302620.3:p.Leu384Met
ENST00000307503.3:c.1150C>A ENSP00000302620.3:p.Leu384Met
ENST00000470255.1:n.928C>A
NM_000030.2:c.1150C>A NP_000021.1:p.Leu384Met
NM_000030.3:c.1150C>A MANE Select NP_000021.1:p.Leu384Met