Canonical Allele Identifier: CA275557
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204024
dbSNP Id: rs180177174

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869049_240869122dup , CM000664.2:g.240869049_240869122dup GRCh38
NC_000002.11:g.241808466_241808539dup , CM000664.1:g.241808466_241808539dup GRCh37
NC_000002.10:g.241457139_241457212dup NCBI36
NG_008005.1:g.5305_5378dup

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.165+19_166-48dup MANE Select ENSP00000302620.3:n.165+19_166-48dup
ENST00000307503.3:c.165+19_166-48dup ENSP00000302620.3:n.165+19_166-48dup
ENST00000472436.1:n.185+19_186-48dup
NM_000030.2:c.165+19_166-48dup NP_000021.1:n.165+19_166-48dup
XR_924060.1:n.405+1116_405+1189dup
NM_000030.3:c.165+19_166-48dup MANE Select NP_000021.1:n.165+19_166-48dup