Canonical Allele Identifier: CA365395744

Gene: RSPH4A

Linked Data

• dbSNP Id: rs1206156100
• gnomAD v2: 6-116938455-C-A
• gnomAD v4: 6-116617292-C-A
• MyVariant Identifiers: chr6:g.116938455C>A (hg19) ; chr6:g.116617292C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116617292C>A , CM000668.2:g.116617292C>A	GRCh38
NC_000006.11:g.116938455C>A , CM000668.1:g.116938455C>A	GRCh37
NC_000006.10:g.117045148C>A	NCBI36
NG_012934.1:g.5814C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229554.10:c.669C>A MANE Select	ENSP00000229554.5:p.Ser223Arg
ENST00000229554.9:c.669C>A	ENSP00000229554.5:p.Ser223Arg
ENST00000368580.4:c.669C>A	ENSP00000357569.4:p.Ser223Arg
ENST00000368581.8:c.669C>A	ENSP00000357570.4:p.Ser223Arg
NM_001010892.2:c.669C>A	NP_001010892.1:p.Ser223Arg
NM_001161664.1:c.669C>A	NP_001155136.1:p.Ser223Arg
XM_006715469.2:c.669C>A	XP_006715532.1:p.Ser223Arg
XM_011535791.1:c.669C>A	XP_011534093.1:p.Ser223Arg
XM_011535792.1:c.669C>A	XP_011534094.1:p.Ser223Arg
XR_942416.1:n.3320C>A
XM_017010826.1:c.669C>A	XP_016866315.1:p.Ser223Arg
NM_001010892.3:c.669C>A MANE Select	NP_001010892.1:p.Ser223Arg
NM_001161664.2:c.669C>A	NP_001155136.1:p.Ser223Arg