Canonical Allele Identifier: CA351312631
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868882T>A , CM000664.2:g.240868882T>A GRCh38
NC_000002.11:g.241808299T>A , CM000664.1:g.241808299T>A GRCh37
NC_000002.10:g.241456972T>A NCBI36
NG_008005.1:g.5138T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.17T>A MANE Select ENSP00000302620.3:p.Leu6Gln
ENST00000307503.3:c.17T>A ENSP00000302620.3:p.Leu6Gln
ENST00000472436.1:n.37T>A
NM_000030.2:c.17T>A NP_000021.1:p.Leu6Gln
XR_924060.1:n.405+1351A>T
NM_000030.3:c.17T>A MANE Select NP_000021.1:p.Leu6Gln