Canonical Allele Identifier: CA1339335670
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2059036107
gnomAD v4: 2-240877882-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877882G>T , CM000664.2:g.240877882G>T GRCh38
NC_000002.11:g.241817299G>T , CM000664.1:g.241817299G>T GRCh37
NC_000002.10:g.241465972G>T NCBI36
NG_008005.1:g.14138G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.943-140G>T MANE Select ENSP00000302620.3:n.943-140G>T
ENST00000307503.3:c.943-140G>T ENSP00000302620.3:n.943-140G>T
ENST00000470255.1:n.721-140G>T
NM_000030.2:c.943-140G>T NP_000021.1:n.943-140G>T
NM_000030.3:c.943-140G>T MANE Select NP_000021.1:n.943-140G>T
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