Canonical Allele Identifier: CA9522624
Gene: RSPH6A HGNC NCBI

Linked Data

ClinVar Variation Id: 3156729
ClinVar RCV Id: RCV004454591
dbSNP Id: rs563015525
ExAC: 19:46307568 A / G
gnomAD v2: 19-46307568-A-G
gnomAD v3: 19-45804310-A-G
gnomAD v4: 19-45804310-A-G
MyVariant Identifiers: chr19:g.46307568A>G (hg19) chr19:g.45804310A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804310A>G , CM000681.2:g.45804310A>G GRCh38
NC_000019.9:g.46307568A>G , CM000681.1:g.46307568A>G GRCh37
NC_000019.8:g.50999408A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1595T>C MANE Select ENSP00000221538.2:p.Leu532Pro
ENST00000221538.7:c.1595T>C ENSP00000221538.2:p.Leu532Pro
ENST00000597055.1:c.1595T>C ENSP00000472630.1:p.Leu532Pro
ENST00000600188.5:c.803T>C ENSP00000471559.1:p.Leu268Pro
NM_030785.3:c.1595T>C NP_110412.1:p.Leu532Pro
XM_011527351.1:c.1595T>C XP_011525653.1:p.Leu532Pro
XM_011527351.2:c.1595T>C XP_011525653.1:p.Leu532Pro
NM_030785.4:c.1595T>C MANE Select NP_110412.1:p.Leu532Pro
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