Canonical Allele Identifier: CA507965528

Gene: RSPH6A

Linked Data

• dbSNP Id: rs1970513036
• MyVariant Identifiers: chr19:g.46307699G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804441G>A , CM000681.2:g.45804441G>A	GRCh38
NC_000019.9:g.46307699G>A , CM000681.1:g.46307699G>A	GRCh37
NC_000019.8:g.50999539G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1464C>T MANE Select	ENSP00000221538.2:p.Ile488=
ENST00000221538.7:c.1464C>T	ENSP00000221538.2:p.Ile488=
ENST00000597055.1:c.1464C>T	ENSP00000472630.1:p.Ile488=
ENST00000600188.5:c.672C>T	ENSP00000471559.1:p.Ile224=
NM_030785.3:c.1464C>T	NP_110412.1:p.Ile488=
XM_011527351.1:c.1464C>T	XP_011525653.1:p.Ile488=
XM_011527351.2:c.1464C>T	XP_011525653.1:p.Ile488=
NM_030785.4:c.1464C>T MANE Select	NP_110412.1:p.Ile488=