Canonical Allele Identifier: CA406404934
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs1568599075
gnomAD v2: 19-46307683-C-A
gnomAD v3: 19-45804425-C-A
gnomAD v4: 19-45804425-C-A
MyVariant Identifiers: chr19:g.46307683C>A (hg19) chr19:g.45804425C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804425C>A , CM000681.2:g.45804425C>A GRCh38
NC_000019.9:g.46307683C>A , CM000681.1:g.46307683C>A GRCh37
NC_000019.8:g.50999523C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1480G>T MANE Select ENSP00000221538.2:p.Val494Phe
ENST00000221538.7:c.1480G>T ENSP00000221538.2:p.Val494Phe
ENST00000597055.1:c.1480G>T ENSP00000472630.1:p.Val494Phe
ENST00000600188.5:c.688G>T ENSP00000471559.1:p.Val230Phe
NM_030785.3:c.1480G>T NP_110412.1:p.Val494Phe
XM_011527351.1:c.1480G>T XP_011525653.1:p.Val494Phe
XM_011527351.2:c.1480G>T XP_011525653.1:p.Val494Phe
NM_030785.4:c.1480G>T MANE Select NP_110412.1:p.Val494Phe
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