Canonical Allele Identifier: CA68173482
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1102171
ClinVar RCV Id: RCV001425387
dbSNP Id: rs571553505
gnomAD v3: 2-240868913-G-A
gnomAD v4: 2-240868913-G-A
MyVariant Identifiers: chr2:g.241808330G>A (hg19) chr2:g.240868913G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868913G>A , CM000664.2:g.240868913G>A GRCh38
NC_000002.11:g.241808330G>A , CM000664.1:g.241808330G>A GRCh37
NC_000002.10:g.241457003G>A NCBI36
NG_008005.1:g.5169G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.48G>A MANE Select ENSP00000302620.3:p.Lys16=
ENST00000307503.3:c.48G>A ENSP00000302620.3:p.Lys16=
ENST00000472436.1:n.68G>A
NM_000030.2:c.48G>A NP_000021.1:p.Lys16=
XR_924060.1:n.405+1320C>T
NM_000030.3:c.48G>A MANE Select NP_000021.1:p.Lys16=
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