Canonical Allele Identifier: CA351312504
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868873C>T , CM000664.2:g.240868873C>T GRCh38
NC_000002.11:g.241808290C>T , CM000664.1:g.241808290C>T GRCh37
NC_000002.10:g.241456963C>T NCBI36
NG_008005.1:g.5129C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.8C>T MANE Select ENSP00000302620.3:p.Ser3Phe
ENST00000307503.3:c.8C>T ENSP00000302620.3:p.Ser3Phe
ENST00000472436.1:n.28C>T
NM_000030.2:c.8C>T NP_000021.1:p.Ser3Phe
XR_924060.1:n.405+1360G>A
NM_000030.3:c.8C>T MANE Select NP_000021.1:p.Ser3Phe