Canonical Allele Identifier: CA432234997
Gene: AGXT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.241808402C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868985C>G , CM000664.2:g.240868985C>G GRCh38
NC_000002.11:g.241808402C>G , CM000664.1:g.241808402C>G GRCh37
NC_000002.10:g.241457075C>G NCBI36
NG_008005.1:g.5241C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.120C>G MANE Select ENSP00000302620.3:p.Ala40=
ENST00000307503.3:c.120C>G ENSP00000302620.3:p.Ala40=
ENST00000472436.1:n.140C>G
NM_000030.2:c.120C>G NP_000021.1:p.Ala40=
XR_924060.1:n.405+1248G>C
NM_000030.3:c.120C>G MANE Select NP_000021.1:p.Ala40=