Canonical Allele Identifier: CA68180834
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs759060684
MyVariant Identifiers: chr2:g.241817483C>G (hg19) chr2:g.240878066C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878066C>G , CM000664.2:g.240878066C>G GRCh38
NC_000002.11:g.241817483C>G , CM000664.1:g.241817483C>G GRCh37
NC_000002.10:g.241466156C>G NCBI36
NG_008005.1:g.14322C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.987C>G MANE Select ENSP00000302620.3:p.Gly329=
ENST00000307503.3:c.987C>G ENSP00000302620.3:p.Gly329=
ENST00000470255.1:n.765C>G
NM_000030.2:c.987C>G NP_000021.1:p.Gly329=
NM_000030.3:c.987C>G MANE Select NP_000021.1:p.Gly329=
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