Canonical Allele Identifier: CA406404785
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs1169228931
gnomAD v2: 19-46307613-C-T
gnomAD v3: 19-45804355-C-T
gnomAD v4: 19-45804355-C-T
COSMIC: COSM5056771
MyVariant Identifiers: chr19:g.46307613C>T (hg19) chr19:g.45804355C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804355C>T , CM000681.2:g.45804355C>T GRCh38
NC_000019.9:g.46307613C>T , CM000681.1:g.46307613C>T GRCh37
NC_000019.8:g.50999453C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1550G>A MANE Select ENSP00000221538.2:p.Arg517His
ENST00000221538.7:c.1550G>A ENSP00000221538.2:p.Arg517His
ENST00000597055.1:c.1550G>A ENSP00000472630.1:p.Arg517His
ENST00000600188.5:c.758G>A ENSP00000471559.1:p.Arg253His
NM_030785.3:c.1550G>A NP_110412.1:p.Arg517His
XM_011527351.1:c.1550G>A XP_011525653.1:p.Arg517His
XM_011527351.2:c.1550G>A XP_011525653.1:p.Arg517His
NM_030785.4:c.1550G>A MANE Select NP_110412.1:p.Arg517His
Search 100 bp 5'
Search 100 bp 3'