Canonical Allele Identifier: CA766960541
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1222454401

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869090T>G , CM000664.2:g.240869090T>G GRCh38
NC_000002.11:g.241808507T>G , CM000664.1:g.241808507T>G GRCh37
NC_000002.10:g.241457180T>G NCBI36
NG_008005.1:g.5346T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.165+60T>G MANE Select ENSP00000302620.3:n.165+60T>G
ENST00000307503.3:c.165+60T>G ENSP00000302620.3:n.165+60T>G
ENST00000472436.1:n.185+60T>G
NM_000030.2:c.165+60T>G NP_000021.1:n.165+60T>G
XR_924060.1:n.405+1143A>C
NM_000030.3:c.165+60T>G MANE Select NP_000021.1:n.165+60T>G