Canonical Allele Identifier: CA2664009498
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2870727
ClinVar RCV Id: RCV003703452
gnomAD v4: 2-240875918-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875918C>T , CM000664.2:g.240875918C>T GRCh38
NC_000002.11:g.241815335C>T , CM000664.1:g.241815335C>T GRCh37
NC_000002.10:g.241464008C>T NCBI36
NG_008005.1:g.12174C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.777-17C>T MANE Select ENSP00000302620.3:n.777-17C>T
ENST00000307503.3:c.777-17C>T ENSP00000302620.3:n.777-17C>T
ENST00000476698.1:n.429-17C>T
NM_000030.2:c.777-17C>T NP_000021.1:n.777-17C>T
NM_000030.3:c.777-17C>T MANE Select NP_000021.1:n.777-17C>T
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