Canonical Allele Identifier: CA2208965
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs748087765

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868894C>A , CM000664.2:g.240868894C>A GRCh38
NC_000002.11:g.241808311C>A , CM000664.1:g.241808311C>A GRCh37
NC_000002.10:g.241456984C>A NCBI36
NG_008005.1:g.5150C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.29C>A MANE Select ENSP00000302620.3:p.Pro10His
ENST00000307503.3:c.29C>A ENSP00000302620.3:p.Pro10His
ENST00000472436.1:n.49C>A
NM_000030.2:c.29C>A NP_000021.1:p.Pro10His
XR_924060.1:n.405+1339G>T
NM_000030.3:c.29C>A MANE Select NP_000021.1:p.Pro10His