Canonical Allele Identifier: CA68179823
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs555777301
gnomAD v3: 2-240875401-G-A
gnomAD v4: 2-240875401-G-A
MyVariant Identifiers: chr2:g.241814818G>A (hg19) chr2:g.240875401G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875401G>A , CM000664.2:g.240875401G>A GRCh38
NC_000002.11:g.241814818G>A , CM000664.1:g.241814818G>A GRCh37
NC_000002.10:g.241463491G>A NCBI36
NG_008005.1:g.11657G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.776+197G>A MANE Select ENSP00000302620.3:n.776+197G>A
ENST00000307503.3:c.776+197G>A ENSP00000302620.3:n.776+197G>A
ENST00000476698.1:n.428+197G>A
NM_000030.2:c.776+197G>A NP_000021.1:n.776+197G>A
NM_000030.3:c.776+197G>A MANE Select NP_000021.1:n.776+197G>A
Search 100 bp 5'
Search 100 bp 3'