Canonical Allele Identifier: CA1339333236
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2059001823

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873317G>C , CM000664.2:g.240873317G>C GRCh38
NC_000002.11:g.241812734G>C , CM000664.1:g.241812734G>C GRCh37
NC_000002.10:g.241461407G>C NCBI36
NG_008005.1:g.9573G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.595+268G>C MANE Select ENSP00000302620.3:n.595+268G>C
ENST00000307503.3:c.595+268G>C ENSP00000302620.3:n.595+268G>C
ENST00000472436.1:n.883G>C
ENST00000476698.1:n.332+268G>C
NM_000030.2:c.595+268G>C NP_000021.1:n.595+268G>C
NM_000030.3:c.595+268G>C MANE Select NP_000021.1:n.595+268G>C