Canonical Allele Identifier: CA351313576
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869258C>T , CM000664.2:g.240869258C>T GRCh38
NC_000002.11:g.241808675C>T , CM000664.1:g.241808675C>T GRCh37
NC_000002.10:g.241457348C>T NCBI36
NG_008005.1:g.5514C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.254C>T MANE Select ENSP00000302620.3:p.Ala85Val
ENST00000307503.3:c.254C>T ENSP00000302620.3:p.Ala85Val
ENST00000472436.1:n.274C>T
NM_000030.2:c.254C>T NP_000021.1:p.Ala85Val
XR_924060.1:n.405+975G>A
NM_000030.3:c.254C>T MANE Select NP_000021.1:p.Ala85Val