Canonical Allele Identifier: CA365413702
Gene: RSPH4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116632434A>T , CM000668.2:g.116632434A>T GRCh38
NC_000006.11:g.116953597A>T , CM000668.1:g.116953597A>T GRCh37
NC_000006.10:g.117060290A>T NCBI36
NG_012934.1:g.20956A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000229554.10:c.2144A>T MANE Select ENSP00000229554.5:p.Tyr715Phe
ENST00000229554.9:c.2144A>T ENSP00000229554.5:p.Tyr715Phe
ENST00000368580.4:c.1403A>T ENSP00000357569.4:p.Tyr468Phe
ENST00000368581.8:c.*205A>T ENSP00000357570.4:n.*205A>T
NM_001010892.2:c.2144A>T NP_001010892.1:p.Tyr715Phe
NM_001161664.1:c.*205A>T NP_001155136.1:n.*205A>T
XM_006715469.2:c.*205A>T XP_006715532.1:n.*205A>T
XM_011535791.1:c.2144A>T XP_011534093.1:p.Tyr715Phe
XM_011535792.1:c.2144A>T XP_011534094.1:p.Tyr715Phe
XM_017010826.1:c.*205A>T XP_016866315.1:n.*205A>T
NM_001010892.3:c.2144A>T MANE Select NP_001010892.1:p.Tyr715Phe
NM_001161664.2:c.*205A>T NP_001155136.1:n.*205A>T