Canonical Allele Identifier: CA351313656
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869278A>C , CM000664.2:g.240869278A>C GRCh38
NC_000002.11:g.241808695A>C , CM000664.1:g.241808695A>C GRCh37
NC_000002.10:g.241457368A>C NCBI36
NG_008005.1:g.5534A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.274A>C MANE Select ENSP00000302620.3:p.Asn92His
ENST00000307503.3:c.274A>C ENSP00000302620.3:p.Asn92His
ENST00000472436.1:n.294A>C
NM_000030.2:c.274A>C NP_000021.1:p.Asn92His
XR_924060.1:n.405+955T>G
NM_000030.3:c.274A>C MANE Select NP_000021.1:p.Asn92His