Canonical Allele Identifier: CA351318223
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875181G>C , CM000664.2:g.240875181G>C GRCh38
NC_000002.11:g.241814598G>C , CM000664.1:g.241814598G>C GRCh37
NC_000002.10:g.241463271G>C NCBI36
NG_008005.1:g.11437G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.753G>C MANE Select ENSP00000302620.3:p.Trp251Cys
ENST00000307503.3:c.753G>C ENSP00000302620.3:p.Trp251Cys
ENST00000476698.1:n.405G>C
NM_000030.2:c.753G>C NP_000021.1:p.Trp251Cys
NM_000030.3:c.753G>C MANE Select NP_000021.1:p.Trp251Cys