Canonical Allele Identifier: CA432024388
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1085304
ClinVar RCV Id: RCV001402633
dbSNP Id: rs754180585
gnomAD v4: 2-240875139-C-T
MyVariant Identifiers: chr2:g.241814556C>T (hg19)
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Genomic Alleles

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

Transcript Alleles

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