Canonical Allele Identifier: CA68179052
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs755766656
gnomAD v4: 2-240873370-G-T
MyVariant Identifiers: chr2:g.241812787G>T (hg19) chr2:g.240873370G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873370G>T , CM000664.2:g.240873370G>T GRCh38
NC_000002.11:g.241812787G>T , CM000664.1:g.241812787G>T GRCh37
NC_000002.10:g.241461460G>T NCBI36
NG_008005.1:g.9626G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.595+321G>T MANE Select ENSP00000302620.3:n.595+321G>T
ENST00000307503.3:c.595+321G>T ENSP00000302620.3:n.595+321G>T
ENST00000472436.1:n.936G>T
ENST00000476698.1:n.332+321G>T
NM_000030.2:c.595+321G>T NP_000021.1:n.595+321G>T
NM_000030.3:c.595+321G>T MANE Select NP_000021.1:n.595+321G>T
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