Canonical Allele Identifier: CA275625
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204071
ClinVar RCV Id: RCV000186277
dbSNP Id: rs180177268

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868942T>C , CM000664.2:g.240868942T>C GRCh38
NC_000002.11:g.241808359T>C , CM000664.1:g.241808359T>C GRCh37
NC_000002.10:g.241457032T>C NCBI36
NG_008005.1:g.5198T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.77T>C MANE Select ENSP00000302620.3:p.Leu26Pro
ENST00000307503.3:c.77T>C ENSP00000302620.3:p.Leu26Pro
ENST00000472436.1:n.97T>C
NM_000030.2:c.77T>C NP_000021.1:p.Leu26Pro
XR_924060.1:n.405+1291A>G
NM_000030.3:c.77T>C MANE Select NP_000021.1:p.Leu26Pro