Canonical Allele Identifier: CA351318267
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875201G>A , CM000664.2:g.240875201G>A GRCh38
NC_000002.11:g.241814618G>A , CM000664.1:g.241814618G>A GRCh37
NC_000002.10:g.241463291G>A NCBI36
NG_008005.1:g.11457G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.773G>A MANE Select ENSP00000302620.3:p.Arg258Lys
ENST00000307503.3:c.773G>A ENSP00000302620.3:p.Arg258Lys
ENST00000476698.1:n.425G>A
NM_000030.2:c.773G>A NP_000021.1:p.Arg258Lys
NM_000030.3:c.773G>A MANE Select NP_000021.1:p.Arg258Lys