Canonical Allele Identifier: CA406404877
Gene: RSPH6A HGNC NCBI

Linked Data

gnomAD v4: 19-45804399-A-C
MyVariant Identifiers: chr19:g.46307657A>C (hg19) chr19:g.45804399A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804399A>C , CM000681.2:g.45804399A>C GRCh38
NC_000019.9:g.46307657A>C , CM000681.1:g.46307657A>C GRCh37
NC_000019.8:g.50999497A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1506T>G MANE Select ENSP00000221538.2:p.Phe502Leu
ENST00000221538.7:c.1506T>G ENSP00000221538.2:p.Phe502Leu
ENST00000597055.1:c.1506T>G ENSP00000472630.1:p.Phe502Leu
ENST00000600188.5:c.714T>G ENSP00000471559.1:p.Phe238Leu
NM_030785.3:c.1506T>G NP_110412.1:p.Phe502Leu
XM_011527351.1:c.1506T>G XP_011525653.1:p.Phe502Leu
XM_011527351.2:c.1506T>G XP_011525653.1:p.Phe502Leu
NM_030785.4:c.1506T>G MANE Select NP_110412.1:p.Phe502Leu
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