Canonical Allele Identifier: CA406405005
Gene: RSPH6A HGNC NCBI

Linked Data

COSMIC: COSM5822833
MyVariant Identifiers: chr19:g.46307721A>T (hg19) chr19:g.45804463A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804463A>T , CM000681.2:g.45804463A>T GRCh38
NC_000019.9:g.46307721A>T , CM000681.1:g.46307721A>T GRCh37
NC_000019.8:g.50999561A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1442T>A MANE Select ENSP00000221538.2:p.Leu481Gln
ENST00000221538.7:c.1442T>A ENSP00000221538.2:p.Leu481Gln
ENST00000597055.1:c.1442T>A ENSP00000472630.1:p.Leu481Gln
ENST00000600188.5:c.650T>A ENSP00000471559.1:p.Leu217Gln
NM_030785.3:c.1442T>A NP_110412.1:p.Leu481Gln
XM_011527351.1:c.1442T>A XP_011525653.1:p.Leu481Gln
XM_011527351.2:c.1442T>A XP_011525653.1:p.Leu481Gln
NM_030785.4:c.1442T>A MANE Select NP_110412.1:p.Leu481Gln
Search 100 bp 5'
Search 100 bp 3'