Canonical Allele Identifier: CA200272
Community Standard Title: NM_000030.3(AGXT):c.32C>T (p.Pro11Leu)
Gene: AGXT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868897C>T , CM000664.2:g.240868897C>T GRCh38
NC_000002.11:g.241808314C>T , CM000664.1:g.241808314C>T GRCh37
NC_000002.10:g.241456987C>T NCBI36
NG_008005.1:g.5153C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000030.3:c.32C>T MANE Select NP_000021.1:p.Pro11Leu
ENST00000307503.4:c.32C>T MANE Select ENSP00000302620.3:p.Pro11Leu
NM_000030.2:c.32C>T NP_000021.1:p.Pro11Leu
ENST00000307503.3:c.32C>T ENSP00000302620.3:p.Pro11Leu
ENST00000472436.1:n.52C>T
XR_924060.1:n.405+1336G>A
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