Canonical Allele Identifier: CA2754892231
Gene: AGXT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240872925C>A , CM000664.2:g.240872925C>A GRCh38
NC_000002.11:g.241812342C>A , CM000664.1:g.241812342C>A GRCh37
NC_000002.10:g.241461015C>A NCBI36
NG_008005.1:g.9181C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.525-54C>A MANE Select ENSP00000302620.3:n.525-54C>A
ENST00000307503.3:c.525-54C>A ENSP00000302620.3:n.525-54C>A
ENST00000472436.1:n.545-54C>A
ENST00000476698.1:n.262-54C>A
NM_000030.2:c.525-54C>A NP_000021.1:n.525-54C>A
NM_000030.3:c.525-54C>A MANE Select NP_000021.1:n.525-54C>A