Canonical Allele Identifier: CA2664009491
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2841813
ClinVar RCV Id: RCV003721168
gnomAD v4: 2-240875916-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875916G>A , CM000664.2:g.240875916G>A GRCh38
NC_000002.11:g.241815333G>A , CM000664.1:g.241815333G>A GRCh37
NC_000002.10:g.241464006G>A NCBI36
NG_008005.1:g.12172G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.777-19G>A MANE Select ENSP00000302620.3:n.777-19G>A
ENST00000307503.3:c.777-19G>A ENSP00000302620.3:n.777-19G>A
ENST00000476698.1:n.429-19G>A
NM_000030.2:c.777-19G>A NP_000021.1:n.777-19G>A
NM_000030.3:c.777-19G>A MANE Select NP_000021.1:n.777-19G>A
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