Canonical Allele Identifier: CA432234919
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1461964497
gnomAD v2: 2-241808378-C-T
gnomAD v4: 2-240868961-C-T
MyVariant Identifiers: chr2:g.241808378C>T (hg19) chr2:g.240868961C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868961C>T , CM000664.2:g.240868961C>T GRCh38
NC_000002.11:g.241808378C>T , CM000664.1:g.241808378C>T GRCh37
NC_000002.10:g.241457051C>T NCBI36
NG_008005.1:g.5217C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.96C>T MANE Select ENSP00000302620.3:p.Asn32=
ENST00000307503.3:c.96C>T ENSP00000302620.3:p.Asn32=
ENST00000472436.1:n.116C>T
NM_000030.2:c.96C>T NP_000021.1:p.Asn32=
XR_924060.1:n.405+1272G>A
NM_000030.3:c.96C>T MANE Select NP_000021.1:p.Asn32=
Search 100 bp 5'
Search 100 bp 3'