Canonical Allele Identifier: CA9522653
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs777286695
ExAC: 19:46307638 C / T
gnomAD v2: 19-46307638-C-T
gnomAD v4: 19-45804380-C-T
COSMIC: COSM3104678
MyVariant Identifiers: chr19:g.46307638C>T (hg19) chr19:g.45804380C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804380C>T , CM000681.2:g.45804380C>T GRCh38
NC_000019.9:g.46307638C>T , CM000681.1:g.46307638C>T GRCh37
NC_000019.8:g.50999478C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1525G>A MANE Select ENSP00000221538.2:p.Glu509Lys
ENST00000221538.7:c.1525G>A ENSP00000221538.2:p.Glu509Lys
ENST00000597055.1:c.1525G>A ENSP00000472630.1:p.Glu509Lys
ENST00000600188.5:c.733G>A ENSP00000471559.1:p.Glu245Lys
NM_030785.3:c.1525G>A NP_110412.1:p.Glu509Lys
XM_011527351.1:c.1525G>A XP_011525653.1:p.Glu509Lys
XM_011527351.2:c.1525G>A XP_011525653.1:p.Glu509Lys
NM_030785.4:c.1525G>A MANE Select NP_110412.1:p.Glu509Lys
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