Canonical Allele Identifier: CA406404744

Gene: RSPH6A

Linked Data

• MyVariant Identifiers: chr19:g.46307596T>A (hg19) ; chr19:g.45804338T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804338T>A , CM000681.2:g.45804338T>A	GRCh38
NC_000019.9:g.46307596T>A , CM000681.1:g.46307596T>A	GRCh37
NC_000019.8:g.50999436T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1567A>T MANE Select	ENSP00000221538.2:p.Asn523Tyr
ENST00000221538.7:c.1567A>T	ENSP00000221538.2:p.Asn523Tyr
ENST00000597055.1:c.1567A>T	ENSP00000472630.1:p.Asn523Tyr
ENST00000600188.5:c.775A>T	ENSP00000471559.1:p.Asn259Tyr
NM_030785.3:c.1567A>T	NP_110412.1:p.Asn523Tyr
XM_011527351.1:c.1567A>T	XP_011525653.1:p.Asn523Tyr
XM_011527351.2:c.1567A>T	XP_011525653.1:p.Asn523Tyr
NM_030785.4:c.1567A>T MANE Select	NP_110412.1:p.Asn523Tyr