Canonical Allele Identifier: CA2664006363
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869436G>C , CM000664.2:g.240869436G>C GRCh38
NC_000002.11:g.241808853G>C , CM000664.1:g.241808853G>C GRCh37
NC_000002.10:g.241457526G>C NCBI36
NG_008005.1:g.5692G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.358+74G>C MANE Select ENSP00000302620.3:n.358+74G>C
ENST00000307503.3:c.358+74G>C ENSP00000302620.3:n.358+74G>C
ENST00000472436.1:n.378+74G>C
NM_000030.2:c.358+74G>C NP_000021.1:n.358+74G>C
XR_924060.1:n.405+797C>G
NM_000030.3:c.358+74G>C MANE Select NP_000021.1:n.358+74G>C