Canonical Allele Identifier: CA351313446
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869216G>C , CM000664.2:g.240869216G>C GRCh38
NC_000002.11:g.241808633G>C , CM000664.1:g.241808633G>C GRCh37
NC_000002.10:g.241457306G>C NCBI36
NG_008005.1:g.5472G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.212G>C MANE Select ENSP00000302620.3:p.Arg71Thr
ENST00000307503.3:c.212G>C ENSP00000302620.3:p.Arg71Thr
ENST00000472436.1:n.232G>C
NM_000030.2:c.212G>C NP_000021.1:p.Arg71Thr
XR_924060.1:n.405+1017C>G
NM_000030.3:c.212G>C MANE Select NP_000021.1:p.Arg71Thr