Canonical Allele Identifier: CA365413702

Gene: RSPH4A

Linked Data

• MyVariant Identifiers: chr6:g.116953597A>T (hg19) ; chr6:g.116632434A>T (hg38)

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