Canonical Allele Identifier: CA347590639
Community Standard Title: NM_144563.3(RPIA):c.770T>C (p.Ile257Thr)
Gene: RPIA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88738008T>C , CM000664.2:g.88738008T>C GRCh38
NC_000002.11:g.89037525T>C , CM000664.1:g.89037525T>C GRCh37
NC_000002.10:g.88818640T>C NCBI36
NG_016710.1:g.51350T>C

Transcript Alleles

HGVS Amino-acid Change
NM_144563.3:c.770T>C MANE Select NP_653164.2:p.Ile257Thr
ENST00000283646.5:c.770T>C MANE Select ENSP00000283646.3:p.Ile257Thr
NM_144563.2:c.770T>C NP_653164.2:p.Ile257Thr
ENST00000283646.4:c.770T>C ENSP00000283646.3:p.Ile257Thr
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