Canonical Allele Identifier: CA351319821
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs759836341
gnomAD v4: 2-240878768-G-T
MyVariant Identifiers: chr2:g.241818185G>T (hg19) chr2:g.240878768G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878768G>T , CM000664.2:g.240878768G>T GRCh38
NC_000002.11:g.241818185G>T , CM000664.1:g.241818185G>T GRCh37
NC_000002.10:g.241466858G>T NCBI36
NG_008005.1:g.15024G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.1126G>T MANE Select ENSP00000302620.3:p.Val376Leu
ENST00000307503.3:c.1126G>T ENSP00000302620.3:p.Val376Leu
ENST00000470255.1:n.904G>T
NM_000030.2:c.1126G>T NP_000021.1:p.Val376Leu
NM_000030.3:c.1126G>T MANE Select NP_000021.1:p.Val376Leu
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