Canonical Allele Identifier: CA351313454
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869221C>T , CM000664.2:g.240869221C>T GRCh38
NC_000002.11:g.241808638C>T , CM000664.1:g.241808638C>T GRCh37
NC_000002.10:g.241457311C>T NCBI36
NG_008005.1:g.5477C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.217C>T MANE Select ENSP00000302620.3:p.Pro73Ser
ENST00000307503.3:c.217C>T ENSP00000302620.3:p.Pro73Ser
ENST00000472436.1:n.237C>T
NM_000030.2:c.217C>T NP_000021.1:p.Pro73Ser
XR_924060.1:n.405+1012G>A
NM_000030.3:c.217C>T MANE Select NP_000021.1:p.Pro73Ser