Canonical Allele Identifier: CA766965110
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1207688591
gnomAD v4: 2-240875294-A-C
MyVariant Identifiers: chr2:g.241814711A>C (hg19) chr2:g.240875294A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875294A>C , CM000664.2:g.240875294A>C GRCh38
NC_000002.11:g.241814711A>C , CM000664.1:g.241814711A>C GRCh37
NC_000002.10:g.241463384A>C NCBI36
NG_008005.1:g.11550A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.776+90A>C MANE Select ENSP00000302620.3:n.776+90A>C
ENST00000307503.3:c.776+90A>C ENSP00000302620.3:n.776+90A>C
ENST00000476698.1:n.428+90A>C
NM_000030.2:c.776+90A>C NP_000021.1:n.776+90A>C
NM_000030.3:c.776+90A>C MANE Select NP_000021.1:n.776+90A>C
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