Canonical Allele Identifier: CA2754892276
Gene: AGXT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873901A>C , CM000664.2:g.240873901A>C GRCh38
NC_000002.11:g.241813318A>C , CM000664.1:g.241813318A>C GRCh37
NC_000002.10:g.241461991A>C NCBI36
NG_008005.1:g.10157A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.596-77A>C MANE Select ENSP00000302620.3:n.596-77A>C
ENST00000307503.3:c.596-77A>C ENSP00000302620.3:n.596-77A>C
ENST00000476698.1:n.332+852A>C
NM_000030.2:c.596-77A>C NP_000021.1:n.596-77A>C
NM_000030.3:c.596-77A>C MANE Select NP_000021.1:n.596-77A>C