Canonical Allele Identifier: CA1339335485
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2696386
ClinVar RCV Id: RCV003542962
dbSNP Id: rs2059032551
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877521_240877528dup , CM000664.2:g.240877521_240877528dup GRCh38
NC_000002.11:g.241816938_241816945dup , CM000664.1:g.241816938_241816945dup GRCh37
NC_000002.10:g.241465611_241465618dup NCBI36
NG_008005.1:g.13777_13784dup

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.847-16_847-9dup MANE Select ENSP00000302620.3:n.847-16_847-9dup
ENST00000307503.3:c.847-16_847-9dup ENSP00000302620.3:n.847-16_847-9dup
ENST00000470255.1:n.609_616dup
NM_000030.2:c.847-16_847-9dup NP_000021.1:n.847-16_847-9dup
NM_000030.3:c.847-16_847-9dup MANE Select NP_000021.1:n.847-16_847-9dup
Search 100 bp 5'
Search 100 bp 3'