Canonical Allele Identifier: CA275808
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204168
dbSNP Id: rs180177285

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877536G>C , CM000664.2:g.240877536G>C GRCh38
NC_000002.11:g.241816953G>C , CM000664.1:g.241816953G>C GRCh37
NC_000002.10:g.241465626G>C NCBI36
NG_008005.1:g.13792G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.847-1G>C MANE Select ENSP00000302620.3:n.847-1G>C
ENST00000307503.3:c.847-1G>C ENSP00000302620.3:n.847-1G>C
ENST00000470255.1:n.624G>C
NM_000030.2:c.847-1G>C NP_000021.1:n.847-1G>C
NM_000030.3:c.847-1G>C MANE Select NP_000021.1:n.847-1G>C