Canonical Allele Identifier: CA275758
Gene: AGXT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 204136
ClinVar RCV Id: RCV000186343
dbSNP Id: rs180177293

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877583T>C , CM000664.2:g.240877583T>C GRCh38
NC_000002.11:g.241817000T>C , CM000664.1:g.241817000T>C GRCh37
NC_000002.10:g.241465673T>C NCBI36
NG_008005.1:g.13839T>C

Transcript Alleles

HGVS Amino-acid change
NM_000030.2:c.893T>C VV NP_000021.1:p.Leu298Pro
NM_000030.3:c.893T>C VV MANE Preferred
ENST00000307503.3:c.893T>C ENSP00000302620.3:p.Leu298Pro
ENST00000470255.1:n.671T>C