Canonical Allele Identifier: CA351313267
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2058976084
MyVariant Identifiers: chr2:g.241808428T>C (hg19) chr2:g.240869011T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869011T>C , CM000664.2:g.240869011T>C GRCh38
NC_000002.11:g.241808428T>C , CM000664.1:g.241808428T>C GRCh37
NC_000002.10:g.241457101T>C NCBI36
NG_008005.1:g.5267T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.146T>C MANE Select ENSP00000302620.3:p.Met49Thr
ENST00000307503.3:c.146T>C ENSP00000302620.3:p.Met49Thr
ENST00000472436.1:n.166T>C
NM_000030.2:c.146T>C NP_000021.1:p.Met49Thr
XR_924060.1:n.405+1222A>G
NM_000030.3:c.146T>C MANE Select NP_000021.1:p.Met49Thr
Search 100 bp 5'
Search 100 bp 3'