Canonical Allele Identifier: CA432024387
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs754180585
MyVariant Identifiers: chr2:g.241814556C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875139C>A , CM000664.2:g.240875139C>A GRCh38
NC_000002.11:g.241814556C>A , CM000664.1:g.241814556C>A GRCh37
NC_000002.10:g.241463229C>A NCBI36
NG_008005.1:g.11395C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.711C>A MANE Select ENSP00000302620.3:p.Pro237=
ENST00000307503.3:c.711C>A ENSP00000302620.3:p.Pro237=
ENST00000476698.1:n.363C>A
NM_000030.2:c.711C>A NP_000021.1:p.Pro237=
NM_000030.3:c.711C>A MANE Select NP_000021.1:p.Pro237=
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