Canonical Allele Identifier: CA432021934
Gene: AGXT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.241808733C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869316C>A , CM000664.2:g.240869316C>A GRCh38
NC_000002.11:g.241808733C>A , CM000664.1:g.241808733C>A GRCh37
NC_000002.10:g.241457406C>A NCBI36
NG_008005.1:g.5572C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.312C>A MANE Select ENSP00000302620.3:p.Ala104=
ENST00000307503.3:c.312C>A ENSP00000302620.3:p.Ala104=
ENST00000472436.1:n.332C>A
NM_000030.2:c.312C>A NP_000021.1:p.Ala104=
XR_924060.1:n.405+917G>T
NM_000030.3:c.312C>A MANE Select NP_000021.1:p.Ala104=