Canonical Allele Identifier: CA432234743
Gene: AGXT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.241808622G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869205G>A , CM000664.2:g.240869205G>A GRCh38
NC_000002.11:g.241808622G>A , CM000664.1:g.241808622G>A GRCh37
NC_000002.10:g.241457295G>A NCBI36
NG_008005.1:g.5461G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.201G>A MANE Select ENSP00000302620.3:p.Val67=
ENST00000307503.3:c.201G>A ENSP00000302620.3:p.Val67=
ENST00000472436.1:n.221G>A
NM_000030.2:c.201G>A NP_000021.1:p.Val67=
XR_924060.1:n.405+1028C>T
NM_000030.3:c.201G>A MANE Select NP_000021.1:p.Val67=