Canonical Allele Identifier: CA351313435
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869210A>T , CM000664.2:g.240869210A>T GRCh38
NC_000002.11:g.241808627A>T , CM000664.1:g.241808627A>T GRCh37
NC_000002.10:g.241457300A>T NCBI36
NG_008005.1:g.5466A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.206A>T MANE Select ENSP00000302620.3:p.Gln69Leu
ENST00000307503.3:c.206A>T ENSP00000302620.3:p.Gln69Leu
ENST00000472436.1:n.226A>T
NM_000030.2:c.206A>T NP_000021.1:p.Gln69Leu
XR_924060.1:n.405+1023T>A
NM_000030.3:c.206A>T MANE Select NP_000021.1:p.Gln69Leu