Canonical Allele Identifier: CA1339333147
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs12997245

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873149G>T , CM000664.2:g.240873149G>T GRCh38
NC_000002.11:g.241812566G>T , CM000664.1:g.241812566G>T GRCh37
NC_000002.10:g.241461239G>T NCBI36
NG_008005.1:g.9405G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.595+100G>T MANE Select ENSP00000302620.3:n.595+100G>T
ENST00000307503.3:c.595+100G>T ENSP00000302620.3:n.595+100G>T
ENST00000472436.1:n.715G>T
ENST00000476698.1:n.332+100G>T
NM_000030.2:c.595+100G>T NP_000021.1:n.595+100G>T
NM_000030.3:c.595+100G>T MANE Select NP_000021.1:n.595+100G>T