Canonical Allele Identifier: CA2209057
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs138025751

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869357G>C , CM000664.2:g.240869357G>C GRCh38
NC_000002.11:g.241808774G>C , CM000664.1:g.241808774G>C GRCh37
NC_000002.10:g.241457447G>C NCBI36
NG_008005.1:g.5613G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.353G>C MANE Select ENSP00000302620.3:p.Arg118Pro
ENST00000307503.3:c.353G>C ENSP00000302620.3:p.Arg118Pro
ENST00000472436.1:n.373G>C
NM_000030.2:c.353G>C NP_000021.1:p.Arg118Pro
XR_924060.1:n.405+876C>G
NM_000030.3:c.353G>C MANE Select NP_000021.1:p.Arg118Pro