Canonical Allele Identifier: CA68181111
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs771716822

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878796A>T , CM000664.2:g.240878796A>T GRCh38
NC_000002.11:g.241818213A>T , CM000664.1:g.241818213A>T GRCh37
NC_000002.10:g.241466886A>T NCBI36
NG_008005.1:g.15052A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.1154A>T MANE Select ENSP00000302620.3:p.Gln385Leu
ENST00000307503.3:c.1154A>T ENSP00000302620.3:p.Gln385Leu
ENST00000470255.1:n.932A>T
NM_000030.2:c.1154A>T NP_000021.1:p.Gln385Leu
NM_000030.3:c.1154A>T MANE Select NP_000021.1:p.Gln385Leu