Canonical Allele Identifier: CA351313321
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869026A>G , CM000664.2:g.240869026A>G GRCh38
NC_000002.11:g.241808443A>G , CM000664.1:g.241808443A>G GRCh37
NC_000002.10:g.241457116A>G NCBI36
NG_008005.1:g.5282A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.161A>G MANE Select ENSP00000302620.3:p.Tyr54Cys
ENST00000307503.3:c.161A>G ENSP00000302620.3:p.Tyr54Cys
ENST00000472436.1:n.181A>G
NM_000030.2:c.161A>G NP_000021.1:p.Tyr54Cys
XR_924060.1:n.405+1207T>C
NM_000030.3:c.161A>G MANE Select NP_000021.1:p.Tyr54Cys