Canonical Allele Identifier: CA351318388
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875983C>A , CM000664.2:g.240875983C>A GRCh38
NC_000002.11:g.241815400C>A , CM000664.1:g.241815400C>A GRCh37
NC_000002.10:g.241464073C>A NCBI36
NG_008005.1:g.12239C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.825C>A MANE Select ENSP00000302620.3:p.Ser275Arg
ENST00000307503.3:c.825C>A ENSP00000302620.3:p.Ser275Arg
ENST00000476698.1:n.477C>A
NM_000030.2:c.825C>A NP_000021.1:p.Ser275Arg
NM_000030.3:c.825C>A MANE Select NP_000021.1:p.Ser275Arg