Canonical Allele Identifier: CA351312524
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240868875-C-T
MyVariant Identifiers: chr2:g.241808292C>T (hg19) chr2:g.240868875C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868875C>T , CM000664.2:g.240868875C>T GRCh38
NC_000002.11:g.241808292C>T , CM000664.1:g.241808292C>T GRCh37
NC_000002.10:g.241456965C>T NCBI36
NG_008005.1:g.5131C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.10C>T MANE Select ENSP00000302620.3:p.His4Tyr
ENST00000307503.3:c.10C>T ENSP00000302620.3:p.His4Tyr
ENST00000472436.1:n.30C>T
NM_000030.2:c.10C>T NP_000021.1:p.His4Tyr
XR_924060.1:n.405+1358G>A
NM_000030.3:c.10C>T MANE Select NP_000021.1:p.His4Tyr
Search 100 bp 5'
Search 100 bp 3'