Canonical Allele Identifier: CA144911
Gene: RSPH1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.42486463T>G
GRCh37 chr21:g.43906573T>G
gnomAD v2:
21:43906573 T / G
gnomAD v3:
21:42486463 T / G
gnomAD v4:
chr21-42486463-T-G
Joint Max Group AF 0.00083903 (NFE)
Genomes Max Group AF 0.00057244 (NFE)
Exomes Max Group AF 0.00084635 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42486463T>G , CM000683.2:g.42486463T>G GRCh38
NC_000021.8:g.43906573T>G , CM000683.1:g.43906573T>G GRCh37
NC_000021.7:g.42779642T>G NCBI36
NG_034257.1:g.14892A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291536.8:c.275-2A>C MANE Select ENSP00000291536.3:n.275-2A>C
ENST00000291536.7:c.275-2A>C ENSP00000291536.3:n.275-2A>C
ENST00000398352.3:c.161-2A>C ENSP00000381395.3:n.161-2A>C
ENST00000493019.1:n.335-2A>C
NM_001286506.1:c.161-2A>C NP_001273435.1:n.161-2A>C
NM_080860.3:c.275-2A>C NP_543136.1:n.275-2A>C
XM_005261208.1:c.68-2A>C XP_005261265.1:n.68-2A>C
XM_011529786.1:c.275-2A>C XP_011528088.1:n.275-2A>C
XM_005261208.2:c.68-2A>C XP_005261265.1:n.68-2A>C
NM_080860.4:c.275-2A>C MANE Select NP_543136.1:n.275-2A>C
NM_001286506.2:c.161-2A>C NP_001273435.1:n.161-2A>C
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