Canonical Allele Identifier: CA1044068949
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2059017887
gnomAD v3: 2-240875236-G-A
gnomAD v4: 2-240875236-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875236G>A , CM000664.2:g.240875236G>A GRCh38
NC_000002.11:g.241814653G>A , CM000664.1:g.241814653G>A GRCh37
NC_000002.10:g.241463326G>A NCBI36
NG_008005.1:g.11492G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.776+32G>A MANE Select ENSP00000302620.3:n.776+32G>A
ENST00000307503.3:c.776+32G>A ENSP00000302620.3:n.776+32G>A
ENST00000476698.1:n.428+32G>A
NM_000030.2:c.776+32G>A NP_000021.1:n.776+32G>A
NM_000030.3:c.776+32G>A MANE Select NP_000021.1:n.776+32G>A
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