Canonical Allele Identifier: CA432027188
Gene: AGXT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.241818208C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878791C>A , CM000664.2:g.240878791C>A GRCh38
NC_000002.11:g.241818208C>A , CM000664.1:g.241818208C>A GRCh37
NC_000002.10:g.241466881C>A NCBI36
NG_008005.1:g.15047C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1149C>A MANE Select ENSP00000302620.3:p.Ala383=
ENST00000307503.3:c.1149C>A ENSP00000302620.3:p.Ala383=
ENST00000470255.1:n.927C>A
NM_000030.2:c.1149C>A NP_000021.1:p.Ala383=
NM_000030.3:c.1149C>A MANE Select NP_000021.1:p.Ala383=