Canonical Allele Identifier: CA351313419
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869203G>T , CM000664.2:g.240869203G>T GRCh38
NC_000002.11:g.241808620G>T , CM000664.1:g.241808620G>T GRCh37
NC_000002.10:g.241457293G>T NCBI36
NG_008005.1:g.5459G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.199G>T MANE Select ENSP00000302620.3:p.Val67Leu
ENST00000307503.3:c.199G>T ENSP00000302620.3:p.Val67Leu
ENST00000472436.1:n.219G>T
NM_000030.2:c.199G>T NP_000021.1:p.Val67Leu
XR_924060.1:n.405+1030C>A
NM_000030.3:c.199G>T MANE Select NP_000021.1:p.Val67Leu