Canonical Allele Identifier: CA365413350

Gene: RSPH4A

Linked Data

• gnomAD v4: 6-116632359-G-A
• MyVariant Identifiers: chr6:g.116953522G>A (hg19) ; chr6:g.116632359G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116632359G>A , CM000668.2:g.116632359G>A	GRCh38
NC_000006.11:g.116953522G>A , CM000668.1:g.116953522G>A	GRCh37
NC_000006.10:g.117060215G>A	NCBI36
NG_012934.1:g.20881G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229554.10:c.2069G>A MANE Select	ENSP00000229554.5:p.Arg690Lys
ENST00000229554.9:c.2069G>A	ENSP00000229554.5:p.Arg690Lys
ENST00000368580.4:c.1328G>A	ENSP00000357569.4:p.Arg443Lys
ENST00000368581.8:c.*130G>A	ENSP00000357570.4:n.*130G>A
NM_001010892.2:c.2069G>A	NP_001010892.1:p.Arg690Lys
NM_001161664.1:c.*130G>A	NP_001155136.1:n.*130G>A
XM_006715469.2:c.*130G>A	XP_006715532.1:n.*130G>A
XM_011535791.1:c.2069G>A	XP_011534093.1:p.Arg690Lys
XM_011535792.1:c.2069G>A	XP_011534094.1:p.Arg690Lys
XM_017010826.1:c.*130G>A	XP_016866315.1:n.*130G>A
NM_001010892.3:c.2069G>A MANE Select	NP_001010892.1:p.Arg690Lys
NM_001161664.2:c.*130G>A	NP_001155136.1:n.*130G>A