Canonical Allele Identifier: CA340445
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 5646
dbSNP Id: rs121908525

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875159T>C , CM000664.2:g.240875159T>C GRCh38
NC_000002.11:g.241814576T>C , CM000664.1:g.241814576T>C GRCh37
NC_000002.10:g.241463249T>C NCBI36
NG_008005.1:g.11415T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.731T>C MANE Select ENSP00000302620.3:p.Ile244Thr
ENST00000307503.3:c.731T>C ENSP00000302620.3:p.Ile244Thr
ENST00000476698.1:n.383T>C
NM_000030.2:c.731T>C NP_000021.1:p.Ile244Thr
NM_000030.3:c.731T>C MANE Select NP_000021.1:p.Ile244Thr