Canonical Allele Identifier: CA68181096
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs989352798
gnomAD v4: 2-240878769-T-C
MyVariant Identifiers: chr2:g.241818186T>C (hg19) chr2:g.240878769T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878769T>C , CM000664.2:g.240878769T>C GRCh38
NC_000002.11:g.241818186T>C , CM000664.1:g.241818186T>C GRCh37
NC_000002.10:g.241466859T>C NCBI36
NG_008005.1:g.15025T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.1127T>C MANE Select ENSP00000302620.3:p.Val376Ala
ENST00000307503.3:c.1127T>C ENSP00000302620.3:p.Val376Ala
ENST00000470255.1:n.905T>C
NM_000030.2:c.1127T>C NP_000021.1:p.Val376Ala
NM_000030.3:c.1127T>C MANE Select NP_000021.1:p.Val376Ala
Search 100 bp 5'
Search 100 bp 3'