Canonical Allele Identifier: CA351313481
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1346181232
gnomAD v2: 2-241808650-G-A
gnomAD v4: 2-240869233-G-A
MyVariant Identifiers: chr2:g.241808650G>A (hg19) chr2:g.240869233G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869233G>A , CM000664.2:g.240869233G>A GRCh38
NC_000002.11:g.241808650G>A , CM000664.1:g.241808650G>A GRCh37
NC_000002.10:g.241457323G>A NCBI36
NG_008005.1:g.5489G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.229G>A MANE Select ENSP00000302620.3:p.Val77Ile
ENST00000307503.3:c.229G>A ENSP00000302620.3:p.Val77Ile
ENST00000472436.1:n.249G>A
NM_000030.2:c.229G>A NP_000021.1:p.Val77Ile
XR_924060.1:n.405+1000C>T
NM_000030.3:c.229G>A MANE Select NP_000021.1:p.Val77Ile
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