Canonical Allele Identifier: CA68181133
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs3196760
gnomAD v4: 2-240878855-C-A
MyVariant Identifiers: chr2:g.241818272C>A (hg19) chr2:g.240878855C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878855C>A , CM000664.2:g.240878855C>A GRCh38
NC_000002.11:g.241818272C>A , CM000664.1:g.241818272C>A GRCh37
NC_000002.10:g.241466945C>A NCBI36
NG_008005.1:g.15111C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*34C>A MANE Select ENSP00000302620.3:n.*34C>A
ENST00000307503.3:c.*34C>A ENSP00000302620.3:n.*34C>A
ENST00000470255.1:n.991C>A
NM_000030.2:c.*34C>A NP_000021.1:n.*34C>A
NM_000030.3:c.*34C>A MANE Select NP_000021.1:n.*34C>A
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