Canonical Allele Identifier: CA351313375
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869183T>A , CM000664.2:g.240869183T>A GRCh38
NC_000002.11:g.241808600T>A , CM000664.1:g.241808600T>A GRCh37
NC_000002.10:g.241457273T>A NCBI36
NG_008005.1:g.5439T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.179T>A MANE Select ENSP00000302620.3:p.Ile60Asn
ENST00000307503.3:c.179T>A ENSP00000302620.3:p.Ile60Asn
ENST00000472436.1:n.199T>A
NM_000030.2:c.179T>A NP_000021.1:p.Ile60Asn
XR_924060.1:n.405+1050A>T
NM_000030.3:c.179T>A MANE Select NP_000021.1:p.Ile60Asn