Canonical Allele Identifier: CA1339330618
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2058973732
gnomAD v4: 2-240868652-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868652T>C , CM000664.2:g.240868652T>C GRCh38
NC_000002.11:g.241808069T>C , CM000664.1:g.241808069T>C GRCh37
NC_000002.10:g.241456742T>C NCBI36
NG_008005.1:g.4908T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.3:c.-214T>C ENSP00000302620.3:n.-214T>C
XR_924060.1:n.405+1581A>G
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