Canonical Allele Identifier: CA351313370
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869182A>C , CM000664.2:g.240869182A>C GRCh38
NC_000002.11:g.241808599A>C , CM000664.1:g.241808599A>C GRCh37
NC_000002.10:g.241457272A>C NCBI36
NG_008005.1:g.5438A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.178A>C MANE Select ENSP00000302620.3:p.Ile60Leu
ENST00000307503.3:c.178A>C ENSP00000302620.3:p.Ile60Leu
ENST00000472436.1:n.198A>C
NM_000030.2:c.178A>C NP_000021.1:p.Ile60Leu
XR_924060.1:n.405+1051T>G
NM_000030.3:c.178A>C MANE Select NP_000021.1:p.Ile60Leu