Canonical Allele Identifier: CA351318275
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2059017648

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875204T>C , CM000664.2:g.240875204T>C GRCh38
NC_000002.11:g.241814621T>C , CM000664.1:g.241814621T>C GRCh37
NC_000002.10:g.241463294T>C NCBI36
NG_008005.1:g.11460T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.776T>C MANE Select ENSP00000302620.3:p.Met259Thr
ENST00000307503.3:c.776T>C ENSP00000302620.3:p.Met259Thr
ENST00000476698.1:n.428T>C
NM_000030.2:c.776T>C NP_000021.1:p.Met259Thr
NM_000030.3:c.776T>C MANE Select NP_000021.1:p.Met259Thr