Canonical Allele Identifier: CA351312764
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2557073
ClinVar RCV Id: RCV003309067

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868902G>C , CM000664.2:g.240868902G>C GRCh38
NC_000002.11:g.241808319G>C , CM000664.1:g.241808319G>C GRCh37
NC_000002.10:g.241456992G>C NCBI36
NG_008005.1:g.5158G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.37G>C MANE Select ENSP00000302620.3:p.Ala13Pro
ENST00000307503.3:c.37G>C ENSP00000302620.3:p.Ala13Pro
ENST00000472436.1:n.57G>C
NM_000030.2:c.37G>C NP_000021.1:p.Ala13Pro
XR_924060.1:n.405+1331C>G
NM_000030.3:c.37G>C MANE Select NP_000021.1:p.Ala13Pro