Canonical Allele Identifier: CA432234755
Gene: AGXT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.241808321C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868904C>A , CM000664.2:g.240868904C>A GRCh38
NC_000002.11:g.241808321C>A , CM000664.1:g.241808321C>A GRCh37
NC_000002.10:g.241456994C>A NCBI36
NG_008005.1:g.5160C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.39C>A MANE Select ENSP00000302620.3:p.Ala13=
ENST00000307503.3:c.39C>A ENSP00000302620.3:p.Ala13=
ENST00000472436.1:n.59C>A
NM_000030.2:c.39C>A NP_000021.1:p.Ala13=
XR_924060.1:n.405+1329G>T
NM_000030.3:c.39C>A MANE Select NP_000021.1:p.Ala13=