Canonical Allele Identifier: CA432235031
Gene: AGXT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.241808411G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868994G>T , CM000664.2:g.240868994G>T GRCh38
NC_000002.11:g.241808411G>T , CM000664.1:g.241808411G>T GRCh37
NC_000002.10:g.241457084G>T NCBI36
NG_008005.1:g.5250G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.129G>T MANE Select ENSP00000302620.3:p.Leu43=
ENST00000307503.3:c.129G>T ENSP00000302620.3:p.Leu43=
ENST00000472436.1:n.149G>T
NM_000030.2:c.129G>T NP_000021.1:p.Leu43=
XR_924060.1:n.405+1239C>A
NM_000030.3:c.129G>T MANE Select NP_000021.1:p.Leu43=