Canonical Allele Identifier: CA10043694
Gene: RSPH1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.42472841T>C
GRCh37 chr21:g.43892951T>C
Revel Score:
ENST00000291536 (MANE Select) 0.130
ENST00000398352 0.130
gnomAD v2:
21:43892951 T / C
gnomAD v3:
21:42472841 T / C
gnomAD v4:
chr21-42472841-T-C
Joint Max Group AF 0.00198071 (SAS)
Genomes Max Group AF 0.00191463 (SAS)
Exomes Max Group AF 0.00192798 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42472841T>C , CM000683.2:g.42472841T>C GRCh38
NC_000021.8:g.43892951T>C , CM000683.1:g.43892951T>C GRCh37
NC_000021.7:g.42766020T>C NCBI36
NG_034257.1:g.28514A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291536.8:c.907A>G MANE Select ENSP00000291536.3:p.Arg303Gly
ENST00000291536.7:c.907A>G ENSP00000291536.3:p.Arg303Gly
ENST00000398352.3:c.793A>G ENSP00000381395.3:p.Arg265Gly
ENST00000493019.1:n.2525A>G
NM_001286506.1:c.793A>G NP_001273435.1:p.Arg265Gly
NM_080860.3:c.907A>G NP_543136.1:p.Arg303Gly
XM_005261208.1:c.700A>G XP_005261265.1:p.Arg234Gly
XM_011529786.1:c.835A>G XP_011528088.1:p.Arg279Gly
XM_005261208.2:c.700A>G XP_005261265.1:p.Arg234Gly
NM_080860.4:c.907A>G MANE Select NP_543136.1:p.Arg303Gly
NM_001286506.2:c.793A>G NP_001273435.1:p.Arg265Gly
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