Canonical Allele Identifier: CA245163
Gene: RSPH4A HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.116629612G>C
GRCh37 chr6:g.116950775G>C
Revel Score:
ENST00000229554 (MANE Select) 0.220
ENST00000447842 0.220
ENST00000368580 0.220
gnomAD v2:
6:116950775 G / C
gnomAD v3:
6:116629612 G / C
gnomAD v4:
chr6-116629612-G-C
Joint Max Group AF 0.00032852 (NFE)
Genomes Max Group AF 0.00012402 (NFE)
Exomes Max Group AF 0.00033687 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116629612G>C , CM000668.2:g.116629612G>C GRCh38
NC_000006.11:g.116950775G>C , CM000668.1:g.116950775G>C GRCh37
NC_000006.10:g.117057468G>C NCBI36
NG_012934.1:g.18134G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000229554.10:c.1708G>C MANE Select ENSP00000229554.5:p.Glu570Gln
ENST00000229554.9:c.1708G>C ENSP00000229554.5:p.Glu570Gln
ENST00000368580.4:c.967G>C ENSP00000357569.4:p.Glu323Gln
ENST00000368581.8:c.1663-823G>C ENSP00000357570.4:n.1663-823G>C
NM_001010892.2:c.1708G>C NP_001010892.1:p.Glu570Gln
NM_001161664.1:c.1663-823G>C NP_001155136.1:n.1663-823G>C
XM_006715469.2:c.1708G>C XP_006715532.1:p.Glu570Gln
XM_011535791.1:c.1708G>C XP_011534093.1:p.Glu570Gln
XM_011535792.1:c.1708G>C XP_011534094.1:p.Glu570Gln
XR_942416.1:n.4359G>C
XM_017010826.1:c.1663-823G>C XP_016866315.1:n.1663-823G>C
NM_001010892.3:c.1708G>C MANE Select NP_001010892.1:p.Glu570Gln
NM_001161664.2:c.1663-823G>C NP_001155136.1:n.1663-823G>C
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