Canonical Allele Identifier: CA351312980
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868939T>A , CM000664.2:g.240868939T>A GRCh38
NC_000002.11:g.241808356T>A , CM000664.1:g.241808356T>A GRCh37
NC_000002.10:g.241457029T>A NCBI36
NG_008005.1:g.5195T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.74T>A MANE Select ENSP00000302620.3:p.Leu25Gln
ENST00000307503.3:c.74T>A ENSP00000302620.3:p.Leu25Gln
ENST00000472436.1:n.94T>A
NM_000030.2:c.74T>A NP_000021.1:p.Leu25Gln
XR_924060.1:n.405+1294A>T
NM_000030.3:c.74T>A MANE Select NP_000021.1:p.Leu25Gln