Canonical Allele Identifier: CA68173318
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1057407960
gnomAD v3: 2-240868735-A-C
gnomAD v4: 2-240868735-A-C
MyVariant Identifiers: chr2:g.241808152A>C (hg19) chr2:g.240868735A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868735A>C , CM000664.2:g.240868735A>C GRCh38
NC_000002.11:g.241808152A>C , CM000664.1:g.241808152A>C GRCh37
NC_000002.10:g.241456825A>C NCBI36
NG_008005.1:g.4991A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.3:c.-131A>C ENSP00000302620.3:n.-131A>C
XR_924060.1:n.405+1498T>G
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