Canonical Allele Identifier: CA351314020
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1340766669
gnomAD v2: 2-241808777-T-C
gnomAD v4: 2-240869360-T-C
MyVariant Identifiers: chr2:g.241808777T>C (hg19) chr2:g.240869360T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869360T>C , CM000664.2:g.240869360T>C GRCh38
NC_000002.11:g.241808777T>C , CM000664.1:g.241808777T>C GRCh37
NC_000002.10:g.241457450T>C NCBI36
NG_008005.1:g.5616T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.356T>C MANE Select ENSP00000302620.3:p.Ile119Thr
ENST00000307503.3:c.356T>C ENSP00000302620.3:p.Ile119Thr
ENST00000472436.1:n.376T>C
NM_000030.2:c.356T>C NP_000021.1:p.Ile119Thr
XR_924060.1:n.405+873A>G
NM_000030.3:c.356T>C MANE Select NP_000021.1:p.Ile119Thr
Search 100 bp 5'
Search 100 bp 3'