Canonical Allele Identifier: CA1339330690
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs535959738
gnomAD v4: 2-240868787-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868787G>C , CM000664.2:g.240868787G>C GRCh38
NC_000002.11:g.241808204G>C , CM000664.1:g.241808204G>C GRCh37
NC_000002.10:g.241456877G>C NCBI36
NG_008005.1:g.5043G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.3:c.-79G>C ENSP00000302620.3:n.-79G>C
NM_000030.2:c.-79G>C NP_000021.1:n.-79G>C
XR_924060.1:n.405+1446C>G
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