Canonical Allele Identifier: CA351318236
Gene: AGXT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.241814604T>G (hg19) chr2:g.240875187T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875187T>G , CM000664.2:g.240875187T>G GRCh38
NC_000002.11:g.241814604T>G , CM000664.1:g.241814604T>G GRCh37
NC_000002.10:g.241463277T>G NCBI36
NG_008005.1:g.11443T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.759T>G MANE Select ENSP00000302620.3:p.Cys253Trp
ENST00000307503.3:c.759T>G ENSP00000302620.3:p.Cys253Trp
ENST00000476698.1:n.411T>G
NM_000030.2:c.759T>G NP_000021.1:p.Cys253Trp
NM_000030.3:c.759T>G MANE Select NP_000021.1:p.Cys253Trp
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