Canonical Allele Identifier: CA68181091
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs773869672
gnomAD v4: 2-240878760-T-C
MyVariant Identifiers: chr2:g.241818177T>C (hg19) chr2:g.240878760T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878760T>C , CM000664.2:g.240878760T>C GRCh38
NC_000002.11:g.241818177T>C , CM000664.1:g.241818177T>C GRCh37
NC_000002.10:g.241466850T>C NCBI36
NG_008005.1:g.15016T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1118T>C MANE Select ENSP00000302620.3:p.Val373Ala
ENST00000307503.3:c.1118T>C ENSP00000302620.3:p.Val373Ala
ENST00000470255.1:n.896T>C
NM_000030.2:c.1118T>C NP_000021.1:p.Val373Ala
NM_000030.3:c.1118T>C MANE Select NP_000021.1:p.Val373Ala
Search 100 bp 5'
Search 100 bp 3'