Canonical Allele Identifier: CA9522652
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs755723894
ExAC: 19:46307636 C / G
gnomAD v2: 19-46307636-C-G
gnomAD v4: 19-45804378-C-G
MyVariant Identifiers: chr19:g.46307636C>G (hg19) chr19:g.45804378C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804378C>G , CM000681.2:g.45804378C>G GRCh38
NC_000019.9:g.46307636C>G , CM000681.1:g.46307636C>G GRCh37
NC_000019.8:g.50999476C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1527G>C MANE Select ENSP00000221538.2:p.Glu509Asp
ENST00000221538.7:c.1527G>C ENSP00000221538.2:p.Glu509Asp
ENST00000597055.1:c.1527G>C ENSP00000472630.1:p.Glu509Asp
ENST00000600188.5:c.735G>C ENSP00000471559.1:p.Glu245Asp
NM_030785.3:c.1527G>C NP_110412.1:p.Glu509Asp
XM_011527351.1:c.1527G>C XP_011525653.1:p.Glu509Asp
XM_011527351.2:c.1527G>C XP_011525653.1:p.Glu509Asp
NM_030785.4:c.1527G>C MANE Select NP_110412.1:p.Glu509Asp
Search 100 bp 5'
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