Canonical Allele Identifier: CA540537355
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1209077784
gnomAD v2: 2-241815428-G-A
gnomAD v3: 2-240876011-G-A
gnomAD v4: 2-240876011-G-A
MyVariant Identifiers: chr2:g.241815428G>A (hg19) chr2:g.240876011G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240876011G>A , CM000664.2:g.240876011G>A GRCh38
NC_000002.11:g.241815428G>A , CM000664.1:g.241815428G>A GRCh37
NC_000002.10:g.241464101G>A NCBI36
NG_008005.1:g.12267G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.846+7G>A MANE Select ENSP00000302620.3:n.846+7G>A
ENST00000307503.3:c.846+7G>A ENSP00000302620.3:n.846+7G>A
ENST00000476698.1:n.505G>A
NM_000030.2:c.846+7G>A NP_000021.1:n.846+7G>A
NM_000030.3:c.846+7G>A MANE Select NP_000021.1:n.846+7G>A
Search 100 bp 5'
Search 100 bp 3'