Canonical Allele Identifier: CA1044068330
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2059002414
gnomAD v3: 2-240873414-C-T
gnomAD v4: 2-240873414-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873414C>T , CM000664.2:g.240873414C>T GRCh38
NC_000002.11:g.241812831C>T , CM000664.1:g.241812831C>T GRCh37
NC_000002.10:g.241461504C>T NCBI36
NG_008005.1:g.9670C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.595+365C>T MANE Select ENSP00000302620.3:n.595+365C>T
ENST00000307503.3:c.595+365C>T ENSP00000302620.3:n.595+365C>T
ENST00000472436.1:n.980C>T
ENST00000476698.1:n.332+365C>T
NM_000030.2:c.595+365C>T NP_000021.1:n.595+365C>T
NM_000030.3:c.595+365C>T MANE Select NP_000021.1:n.595+365C>T
Search 100 bp 5'
Search 100 bp 3'