Canonical Allele Identifier: CA351319785
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs372138644
gnomAD v4: 2-240878750-C-A
MyVariant Identifiers: chr2:g.241818167C>A (hg19) chr2:g.240878750C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878750C>A , CM000664.2:g.240878750C>A GRCh38
NC_000002.11:g.241818167C>A , CM000664.1:g.241818167C>A GRCh37
NC_000002.10:g.241466840C>A NCBI36
NG_008005.1:g.15006C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1108C>A MANE Select ENSP00000302620.3:p.Arg370Ser
ENST00000307503.3:c.1108C>A ENSP00000302620.3:p.Arg370Ser
ENST00000470255.1:n.886C>A
NM_000030.2:c.1108C>A NP_000021.1:p.Arg370Ser
NM_000030.3:c.1108C>A MANE Select NP_000021.1:p.Arg370Ser
Search 100 bp 5'
Search 100 bp 3'