Canonical Allele Identifier: CA2573135691
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1627556
ClinVar RCV Id: RCV002123092
dbSNP Id: rs2106430397
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875101C>T , CM000664.2:g.240875101C>T GRCh38
NC_000002.11:g.241814518C>T , CM000664.1:g.241814518C>T GRCh37
NC_000002.10:g.241463191C>T NCBI36
NG_008005.1:g.11357C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.681-8C>T MANE Select ENSP00000302620.3:n.681-8C>T
ENST00000307503.3:c.681-8C>T ENSP00000302620.3:n.681-8C>T
ENST00000476698.1:n.333-8C>T
NM_000030.2:c.681-8C>T NP_000021.1:n.681-8C>T
NM_000030.3:c.681-8C>T MANE Select NP_000021.1:n.681-8C>T
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