Canonical Allele Identifier: CA347589050
Community Standard Title: NM_144563.3(RPIA):c.679C>T (p.Arg227Ter)
Gene: RPIA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88736617C>T , CM000664.2:g.88736617C>T GRCh38
NC_000002.11:g.89036134C>T , CM000664.1:g.89036134C>T GRCh37
NC_000002.10:g.88817249C>T NCBI36
NG_016710.1:g.49959C>T

Transcript Alleles

HGVS Amino-acid Change
NM_144563.3:c.679C>T MANE Select NP_653164.2:p.Arg227Ter
ENST00000283646.5:c.679C>T MANE Select ENSP00000283646.3:p.Arg227Ter
NM_144563.2:c.679C>T NP_653164.2:p.Arg227Ter
ENST00000283646.4:c.679C>T ENSP00000283646.3:p.Arg227Ter
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