Canonical Allele Identifier: CA10043746
Gene: RSPH1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.42475990A>G
GRCh37 chr21:g.43896100A>G
Revel Score:
ENST00000291536 (MANE Select) 0.051
ENST00000398352 0.051
gnomAD v2:
21:43896100 A / G
gnomAD v3:
21:42475990 A / G
gnomAD v4:
chr21-42475990-A-G
Joint Max Group AF 0.00025953 (NFE)
Genomes Max Group AF 0.00006924 (NFE)
Exomes Max Group AF 0.00026732 (NFE)
ClinVar RCV:
RCV000550740
RCV002525273
ClinVar Variation:
454952
dbSNP:
139390401
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42475990A>G , CM000683.2:g.42475990A>G GRCh38
NC_000021.8:g.43896100A>G , CM000683.1:g.43896100A>G GRCh37
NC_000021.7:g.42769169A>G NCBI36
NG_034257.1:g.25365T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291536.8:c.785T>C MANE Select ENSP00000291536.3:p.Met262Thr
ENST00000291536.7:c.785T>C ENSP00000291536.3:p.Met262Thr
ENST00000398352.3:c.671T>C ENSP00000381395.3:p.Met224Thr
ENST00000493019.1:n.2403T>C
NM_001286506.1:c.671T>C NP_001273435.1:p.Met224Thr
NM_080860.3:c.785T>C NP_543136.1:p.Met262Thr
XM_005261208.1:c.578T>C XP_005261265.1:p.Met193Thr
XM_011529786.1:c.713T>C XP_011528088.1:p.Met238Thr
XM_005261208.2:c.578T>C XP_005261265.1:p.Met193Thr
NM_080860.4:c.785T>C MANE Select NP_543136.1:p.Met262Thr
NM_001286506.2:c.671T>C NP_001273435.1:p.Met224Thr
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