Canonical Allele Identifier: CA351312688
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1575707111

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868890A>C , CM000664.2:g.240868890A>C GRCh38
NC_000002.11:g.241808307A>C , CM000664.1:g.241808307A>C GRCh37
NC_000002.10:g.241456980A>C NCBI36
NG_008005.1:g.5146A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.25A>C MANE Select ENSP00000302620.3:p.Thr9Pro
ENST00000307503.3:c.25A>C ENSP00000302620.3:p.Thr9Pro
ENST00000472436.1:n.45A>C
NM_000030.2:c.25A>C NP_000021.1:p.Thr9Pro
XR_924060.1:n.405+1343T>G
NM_000030.3:c.25A>C MANE Select NP_000021.1:p.Thr9Pro