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ClinGen Allele Registry
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Canonical Allele Identifier:
CA347765752
Community Standard Title: NM_144563.3(RPIA):c.347-1G>A
Gene: RPIA
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.88700008G>A , CM000664.2:g.88700008G>A
GRCh38
NC_000002.11:g.88999526G>A , CM000664.1:g.88999526G>A
GRCh37
NC_000002.10:g.88780641G>A
NCBI36
NG_016710.1:g.13351G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_144563.3:c.347-1G>A
MANE Select
NP_653164.2:n.347-1G>A
ENST00000283646.5:c.347-1G>A
MANE Select
ENSP00000283646.3:n.347-1G>A
NM_144563.2:c.347-1G>A
NP_653164.2:n.347-1G>A
ENST00000283646.4:c.347-1G>A
ENSP00000283646.3:n.347-1G>A
XR_939673.1:n.398-1G>A
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