Canonical Allele Identifier: CA351319902
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1338597379
gnomAD v2: 2-241818227-A-C
gnomAD v4: 2-240878810-A-C
MyVariant Identifiers: chr2:g.241818227A>C (hg19) chr2:g.240878810A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878810A>C , CM000664.2:g.240878810A>C GRCh38
NC_000002.11:g.241818227A>C , CM000664.1:g.241818227A>C GRCh37
NC_000002.10:g.241466900A>C NCBI36
NG_008005.1:g.15066A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1168A>C MANE Select ENSP00000302620.3:p.Lys390Gln
ENST00000307503.3:c.1168A>C ENSP00000302620.3:p.Lys390Gln
ENST00000470255.1:n.946A>C
NM_000030.2:c.1168A>C NP_000021.1:p.Lys390Gln
NM_000030.3:c.1168A>C MANE Select NP_000021.1:p.Lys390Gln
Search 100 bp 5'
Search 100 bp 3'