Canonical Allele Identifier: CA68179322
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs11688815
gnomAD v4: 2-240874118-G-T
MyVariant Identifiers: chr2:g.241813535G>T (hg19) chr2:g.240874118G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240874118G>T , CM000664.2:g.240874118G>T GRCh38
NC_000002.11:g.241813535G>T , CM000664.1:g.241813535G>T GRCh37
NC_000002.10:g.241462208G>T NCBI36
NG_008005.1:g.10374G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.680+56G>T MANE Select ENSP00000302620.3:n.680+56G>T
ENST00000307503.3:c.680+56G>T ENSP00000302620.3:n.680+56G>T
ENST00000476698.1:n.333-991G>T
NM_000030.2:c.680+56G>T NP_000021.1:n.680+56G>T
NM_000030.3:c.680+56G>T MANE Select NP_000021.1:n.680+56G>T
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