Canonical Allele Identifier: CA351319241
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877591C>A , CM000664.2:g.240877591C>A GRCh38
NC_000002.11:g.241817008C>A , CM000664.1:g.241817008C>A GRCh37
NC_000002.10:g.241465681C>A NCBI36
NG_008005.1:g.13847C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.901C>A MANE Select ENSP00000302620.3:p.Arg301Ser
ENST00000307503.3:c.901C>A ENSP00000302620.3:p.Arg301Ser
ENST00000470255.1:n.679C>A
NM_000030.2:c.901C>A NP_000021.1:p.Arg301Ser
NM_000030.3:c.901C>A MANE Select NP_000021.1:p.Arg301Ser