Canonical Allele Identifier: CA351319875
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878799A>C , CM000664.2:g.240878799A>C GRCh38
NC_000002.11:g.241818216A>C , CM000664.1:g.241818216A>C GRCh37
NC_000002.10:g.241466889A>C NCBI36
NG_008005.1:g.15055A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.1157A>C MANE Select ENSP00000302620.3:p.His386Pro
ENST00000307503.3:c.1157A>C ENSP00000302620.3:p.His386Pro
ENST00000470255.1:n.935A>C
NM_000030.2:c.1157A>C NP_000021.1:p.His386Pro
NM_000030.3:c.1157A>C MANE Select NP_000021.1:p.His386Pro