Canonical Allele Identifier: CA351319590
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2059038005
MyVariant Identifiers: chr2:g.241817508T>A (hg19) chr2:g.240878091T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878091T>A , CM000664.2:g.240878091T>A GRCh38
NC_000002.11:g.241817508T>A , CM000664.1:g.241817508T>A GRCh37
NC_000002.10:g.241466181T>A NCBI36
NG_008005.1:g.14347T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.1012T>A MANE Select ENSP00000302620.3:p.Tyr338Asn
ENST00000307503.3:c.1012T>A ENSP00000302620.3:p.Tyr338Asn
ENST00000470255.1:n.790T>A
NM_000030.2:c.1012T>A NP_000021.1:p.Tyr338Asn
NM_000030.3:c.1012T>A MANE Select NP_000021.1:p.Tyr338Asn
Search 100 bp 5'
Search 100 bp 3'