Canonical Allele Identifier: CA275812
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204172
dbSNP Id: rs180177194

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868867_240868868delinsAT , CM000664.2:g.240868867_240868868delinsAT GRCh38
NC_000002.11:g.241808284_241808285delinsAT , CM000664.1:g.241808284_241808285delinsAT GRCh37
NC_000002.10:g.241456957_241456958delinsAT NCBI36
NG_008005.1:g.5123_5124delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.2_3delinsAT MANE Select ENSP00000302620.3:p.Met1Asn
ENST00000307503.3:c.2_3delinsAT ENSP00000302620.3:p.Met1Asn
ENST00000472436.1:n.22_23delinsAT
NM_000030.2:c.2_3delinsAT NP_000021.1:p.Met1Asn
XR_924060.1:n.405+1365_405+1366delinsAT
NM_000030.3:c.2_3delinsAT MANE Select NP_000021.1:p.Met1Asn