Canonical Allele Identifier: CA351319904
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878810A>T , CM000664.2:g.240878810A>T GRCh38
NC_000002.11:g.241818227A>T , CM000664.1:g.241818227A>T GRCh37
NC_000002.10:g.241466900A>T NCBI36
NG_008005.1:g.15066A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1168A>T MANE Select ENSP00000302620.3:p.Lys390Ter
ENST00000307503.3:c.1168A>T ENSP00000302620.3:p.Lys390Ter
ENST00000470255.1:n.946A>T
NM_000030.2:c.1168A>T NP_000021.1:p.Lys390Ter
NM_000030.3:c.1168A>T MANE Select NP_000021.1:p.Lys390Ter