Canonical Allele Identifier: CA68181251
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs186986106
gnomAD v2: 2-241818655-G-C
gnomAD v3: 2-240879238-G-C
gnomAD v4: 2-240879238-G-C
MyVariant Identifiers: chr2:g.241818655G>C (hg19) chr2:g.240879238G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879238G>C , CM000664.2:g.240879238G>C GRCh38
NC_000002.11:g.241818655G>C , CM000664.1:g.241818655G>C GRCh37
NC_000002.10:g.241467328G>C NCBI36
NG_008005.1:g.15494G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*417G>C MANE Select ENSP00000302620.3:n.*417G>C
ENST00000470255.1:n.1374G>C
NM_000030.3:c.*417G>C MANE Select NP_000021.1:n.*417G>C
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