Canonical Allele Identifier: CA766959446
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1388835125
gnomAD v4: 2-240879121-T-C
MyVariant Identifiers: chr2:g.241818538T>C (hg19) chr2:g.240879121T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879121T>C , CM000664.2:g.240879121T>C GRCh38
NC_000002.11:g.241818538T>C , CM000664.1:g.241818538T>C GRCh37
NC_000002.10:g.241467211T>C NCBI36
NG_008005.1:g.15377T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*300T>C MANE Select ENSP00000302620.3:n.*300T>C
ENST00000470255.1:n.1257T>C
NM_000030.3:c.*300T>C MANE Select NP_000021.1:n.*300T>C
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