Canonical Allele Identifier: CA406404640
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs1201690819
gnomAD v2: 19-46307542-A-G
gnomAD v3: 19-45804284-A-G
gnomAD v4: 19-45804284-A-G
COSMIC: COSM4754297
MyVariant Identifiers: chr19:g.46307542A>G (hg19) chr19:g.45804284A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804284A>G , CM000681.2:g.45804284A>G GRCh38
NC_000019.9:g.46307542A>G , CM000681.1:g.46307542A>G GRCh37
NC_000019.8:g.50999382A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1621T>C MANE Select ENSP00000221538.2:p.Trp541Arg
ENST00000221538.7:c.1621T>C ENSP00000221538.2:p.Trp541Arg
ENST00000597055.1:c.1621T>C ENSP00000472630.1:p.Trp541Arg
ENST00000600188.5:c.829T>C ENSP00000471559.1:p.Trp277Arg
NM_030785.3:c.1621T>C NP_110412.1:p.Trp541Arg
XM_011527351.1:c.1621T>C XP_011525653.1:p.Trp541Arg
XM_011527351.2:c.1621T>C XP_011525653.1:p.Trp541Arg
NM_030785.4:c.1621T>C MANE Select NP_110412.1:p.Trp541Arg
Search 100 bp 5'
Search 100 bp 3'