Canonical Allele Identifier: CA68173792
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs974513356
MyVariant Identifiers: chr2:g.241808655C>T (hg19) chr2:g.240869238C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869238C>T , CM000664.2:g.240869238C>T GRCh38
NC_000002.11:g.241808655C>T , CM000664.1:g.241808655C>T GRCh37
NC_000002.10:g.241457328C>T NCBI36
NG_008005.1:g.5494C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.234C>T MANE Select ENSP00000302620.3:p.Ile78=
ENST00000307503.3:c.234C>T ENSP00000302620.3:p.Ile78=
ENST00000472436.1:n.254C>T
NM_000030.2:c.234C>T NP_000021.1:p.Ile78=
XR_924060.1:n.405+995G>A
NM_000030.3:c.234C>T MANE Select NP_000021.1:p.Ile78=
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Search 100 bp 3'