Canonical Allele Identifier: CA1044069030
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2059018358
gnomAD v3: 2-240875324-C-T
gnomAD v4: 2-240875324-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875324C>T , CM000664.2:g.240875324C>T GRCh38
NC_000002.11:g.241814741C>T , CM000664.1:g.241814741C>T GRCh37
NC_000002.10:g.241463414C>T NCBI36
NG_008005.1:g.11580C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.776+120C>T MANE Select ENSP00000302620.3:n.776+120C>T
ENST00000307503.3:c.776+120C>T ENSP00000302620.3:n.776+120C>T
ENST00000476698.1:n.428+120C>T
NM_000030.2:c.776+120C>T NP_000021.1:n.776+120C>T
NM_000030.3:c.776+120C>T MANE Select NP_000021.1:n.776+120C>T
Search 100 bp 5'
Search 100 bp 3'