Canonical Allele Identifier: CA275561
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204028
ClinVar RCV Id: RCV000186232
dbSNP Id: rs180177178

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869123T>C , CM000664.2:g.240869123T>C GRCh38
NC_000002.11:g.241808540T>C , CM000664.1:g.241808540T>C GRCh37
NC_000002.10:g.241457213T>C NCBI36
NG_008005.1:g.5379T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.166-47T>C MANE Select ENSP00000302620.3:n.166-47T>C
ENST00000307503.3:c.166-47T>C ENSP00000302620.3:n.166-47T>C
ENST00000472436.1:n.186-47T>C
NM_000030.2:c.166-47T>C NP_000021.1:n.166-47T>C
XR_924060.1:n.405+1110A>G
NM_000030.3:c.166-47T>C MANE Select NP_000021.1:n.166-47T>C