Canonical Allele Identifier: CA2701683039
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2058976704

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869038T>G , CM000664.2:g.240869038T>G GRCh38
NC_000002.11:g.241808455T>G , CM000664.1:g.241808455T>G GRCh37
NC_000002.10:g.241457128T>G NCBI36
NG_008005.1:g.5294T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.165+8T>G MANE Select ENSP00000302620.3:n.165+8T>G
ENST00000307503.3:c.165+8T>G ENSP00000302620.3:n.165+8T>G
ENST00000472436.1:n.185+8T>G
NM_000030.2:c.165+8T>G NP_000021.1:n.165+8T>G
XR_924060.1:n.405+1195A>C
NM_000030.3:c.165+8T>G MANE Select NP_000021.1:n.165+8T>G