Canonical Allele Identifier: CA347588811
Community Standard Title: NM_144563.3(RPIA):c.627G>C (p.Trp209Cys)
Gene: RPIA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88736565G>C , CM000664.2:g.88736565G>C GRCh38
NC_000002.11:g.89036082G>C , CM000664.1:g.89036082G>C GRCh37
NC_000002.10:g.88817197G>C NCBI36
NG_016710.1:g.49907G>C

Transcript Alleles

HGVS Amino-acid Change
NM_144563.3:c.627G>C MANE Select NP_653164.2:p.Trp209Cys
ENST00000283646.5:c.627G>C MANE Select ENSP00000283646.3:p.Trp209Cys
NM_144563.2:c.627G>C NP_653164.2:p.Trp209Cys
ENST00000283646.4:c.627G>C ENSP00000283646.3:p.Trp209Cys
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