Canonical Allele Identifier: CA351316589
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240873028-C-G
MyVariant Identifiers: chr2:g.241812445C>G (hg19) chr2:g.240873028C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873028C>G , CM000664.2:g.240873028C>G GRCh38
NC_000002.11:g.241812445C>G , CM000664.1:g.241812445C>G GRCh37
NC_000002.10:g.241461118C>G NCBI36
NG_008005.1:g.9284C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.574C>G MANE Select ENSP00000302620.3:p.Pro192Ala
ENST00000307503.3:c.574C>G ENSP00000302620.3:p.Pro192Ala
ENST00000472436.1:n.594C>G
ENST00000476698.1:n.311C>G
NM_000030.2:c.574C>G NP_000021.1:p.Pro192Ala
NM_000030.3:c.574C>G MANE Select NP_000021.1:p.Pro192Ala
Search 100 bp 5'
Search 100 bp 3'