Canonical Allele Identifier: CA365413344

Gene: RSPH4A

Linked Data

• MyVariant Identifiers: chr6:g.116953520C>G (hg19) ; chr6:g.116632357C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116632357C>G , CM000668.2:g.116632357C>G	GRCh38
NC_000006.11:g.116953520C>G , CM000668.1:g.116953520C>G	GRCh37
NC_000006.10:g.117060213C>G	NCBI36
NG_012934.1:g.20879C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229554.10:c.2067C>G MANE Select	ENSP00000229554.5:p.Phe689Leu
ENST00000229554.9:c.2067C>G	ENSP00000229554.5:p.Phe689Leu
ENST00000368580.4:c.1326C>G	ENSP00000357569.4:p.Phe442Leu
ENST00000368581.8:c.*128C>G	ENSP00000357570.4:n.*128C>G
NM_001010892.2:c.2067C>G	NP_001010892.1:p.Phe689Leu
NM_001161664.1:c.*128C>G	NP_001155136.1:n.*128C>G
XM_006715469.2:c.*128C>G	XP_006715532.1:n.*128C>G
XM_011535791.1:c.2067C>G	XP_011534093.1:p.Phe689Leu
XM_011535792.1:c.2067C>G	XP_011534094.1:p.Phe689Leu
XM_017010826.1:c.*128C>G	XP_016866315.1:n.*128C>G
NM_001010892.3:c.2067C>G MANE Select	NP_001010892.1:p.Phe689Leu
NM_001161664.2:c.*128C>G	NP_001155136.1:n.*128C>G