Canonical Allele Identifier: CA1755044
Community Standard Title: NM_144563.3(RPIA):c.5A>G (p.Gln2Arg)
Gene: RPIA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88691703A>G , CM000664.2:g.88691703A>G GRCh38
NC_000002.11:g.88991221A>G , CM000664.1:g.88991221A>G GRCh37
NC_000002.10:g.88772336A>G NCBI36
NG_016710.1:g.5046A>G

Transcript Alleles

HGVS Amino-acid Change
NM_144563.3:c.5A>G MANE Select NP_653164.2:p.Gln2Arg
ENST00000283646.5:c.5A>G MANE Select ENSP00000283646.3:p.Gln2Arg
NM_144563.2:c.5A>G NP_653164.2:p.Gln2Arg
ENST00000283646.4:c.5A>G ENSP00000283646.3:p.Gln2Arg
XR_939673.1:n.56A>G
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