Canonical Allele Identifier: CA1044064431
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1353051385
gnomAD v3: 2-240868488-G-C
gnomAD v4: 2-240868488-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868488G>C , CM000664.2:g.240868488G>C GRCh38
NC_000002.11:g.241807905G>C , CM000664.1:g.241807905G>C GRCh37
NC_000002.10:g.241456578G>C NCBI36
NG_008005.1:g.4744G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.3:c.-378G>C ENSP00000302620.3:n.-378G>C
XR_924060.1:n.405+1745C>G
Search 100 bp 5'
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