Canonical Allele Identifier: CA351318133
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs180177258
MyVariant Identifiers: chr2:g.241814572G>T (hg19) chr2:g.240875155G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875155G>T , CM000664.2:g.240875155G>T GRCh38
NC_000002.11:g.241814572G>T , CM000664.1:g.241814572G>T GRCh37
NC_000002.10:g.241463245G>T NCBI36
NG_008005.1:g.11411G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.727G>T MANE Select ENSP00000302620.3:p.Asp243Tyr
ENST00000307503.3:c.727G>T ENSP00000302620.3:p.Asp243Tyr
ENST00000476698.1:n.379G>T
NM_000030.2:c.727G>T NP_000021.1:p.Asp243Tyr
NM_000030.3:c.727G>T MANE Select NP_000021.1:p.Asp243Tyr
Search 100 bp 5'
Search 100 bp 3'