Canonical Allele Identifier: CA2338614996

Gene: RSPH6A

Linked Data

• dbSNP Id: rs1970511337
• gnomAD v4: 19-45804361-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804362dup , CM000681.2:g.45804362dup	GRCh38
NC_000019.9:g.46307620dup , CM000681.1:g.46307620dup	GRCh37
NC_000019.8:g.50999460dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1543dup MANE Select	ENSP00000221538.2:p.Ala515GlyfsTer?
ENST00000221538.7:c.1543dup	ENSP00000221538.2:p.Ala515GlyfsTer?
ENST00000597055.1:c.1543dup	ENSP00000472630.1:p.Ala515GlyfsTer?
ENST00000600188.5:c.751dup	ENSP00000471559.1:p.Ala251GlyfsTer?
NM_030785.3:c.1543dup	NP_110412.1:p.Ala515GlyfsTer?
XM_011527351.1:c.1543dup	XP_011525653.1:p.Ala515GlyfsTer?
XM_011527351.2:c.1543dup	XP_011525653.1:p.Ala515GlyfsTer?
NM_030785.4:c.1543dup MANE Select	NP_110412.1:p.Ala515GlyfsTer?