Canonical Allele Identifier: CA9522610
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs529295373
ExAC: 19:46307514 G / C
gnomAD v2: 19-46307514-G-C
gnomAD v3: 19-45804256-G-C
gnomAD v4: 19-45804256-G-C
MyVariant Identifiers: chr19:g.46307514G>C (hg19) chr19:g.45804256G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804256G>C , CM000681.2:g.45804256G>C GRCh38
NC_000019.9:g.46307514G>C , CM000681.1:g.46307514G>C GRCh37
NC_000019.8:g.50999354G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1649C>G MANE Select ENSP00000221538.2:p.Pro550Arg
ENST00000221538.7:c.1649C>G ENSP00000221538.2:p.Pro550Arg
ENST00000597055.1:c.1649C>G ENSP00000472630.1:p.Pro550Arg
ENST00000600188.5:c.857C>G ENSP00000471559.1:p.Pro286Arg
NM_030785.3:c.1649C>G NP_110412.1:p.Pro550Arg
XM_011527351.1:c.1649C>G XP_011525653.1:p.Pro550Arg
XM_011527351.2:c.1649C>G XP_011525653.1:p.Pro550Arg
NM_030785.4:c.1649C>G MANE Select NP_110412.1:p.Pro550Arg
Search 100 bp 5'
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