Canonical Allele Identifier: CA507965540

Gene: RSPH6A

Linked Data

• MyVariant Identifiers: chr19:g.46307711C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804453C>T , CM000681.2:g.45804453C>T	GRCh38
NC_000019.9:g.46307711C>T , CM000681.1:g.46307711C>T	GRCh37
NC_000019.8:g.50999551C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1452G>A MANE Select	ENSP00000221538.2:p.Gln484=
ENST00000221538.7:c.1452G>A	ENSP00000221538.2:p.Gln484=
ENST00000597055.1:c.1452G>A	ENSP00000472630.1:p.Gln484=
ENST00000600188.5:c.660G>A	ENSP00000471559.1:p.Gln220=
NM_030785.3:c.1452G>A	NP_110412.1:p.Gln484=
XM_011527351.1:c.1452G>A	XP_011525653.1:p.Gln484=
XM_011527351.2:c.1452G>A	XP_011525653.1:p.Gln484=
NM_030785.4:c.1452G>A MANE Select	NP_110412.1:p.Gln484=