Canonical Allele Identifier: CA68178920
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs764315086
gnomAD v4: 2-240873031-C-T
COSMIC: COSM4500983
MyVariant Identifiers: chr2:g.241812448C>T (hg19) chr2:g.240873031C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873031C>T , CM000664.2:g.240873031C>T GRCh38
NC_000002.11:g.241812448C>T , CM000664.1:g.241812448C>T GRCh37
NC_000002.10:g.241461121C>T NCBI36
NG_008005.1:g.9287C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.577C>T MANE Select ENSP00000302620.3:p.Leu193Phe
ENST00000307503.3:c.577C>T ENSP00000302620.3:p.Leu193Phe
ENST00000472436.1:n.597C>T
ENST00000476698.1:n.314C>T
NM_000030.2:c.577C>T NP_000021.1:p.Leu193Phe
NM_000030.3:c.577C>T MANE Select NP_000021.1:p.Leu193Phe
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