Canonical Allele Identifier: CA351313377
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869185A>C , CM000664.2:g.240869185A>C GRCh38
NC_000002.11:g.241808602A>C , CM000664.1:g.241808602A>C GRCh37
NC_000002.10:g.241457275A>C NCBI36
NG_008005.1:g.5441A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.181A>C MANE Select ENSP00000302620.3:p.Lys61Gln
ENST00000307503.3:c.181A>C ENSP00000302620.3:p.Lys61Gln
ENST00000472436.1:n.201A>C
NM_000030.2:c.181A>C NP_000021.1:p.Lys61Gln
XR_924060.1:n.405+1048T>G
NM_000030.3:c.181A>C MANE Select NP_000021.1:p.Lys61Gln