Canonical Allele Identifier: CA2814566560

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45803926G>T , CM000681.2:g.45803926G>T	GRCh38
NC_000019.9:g.46307184G>T , CM000681.1:g.46307184G>T	GRCh37
NC_000019.8:g.50999024G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+326C>A MANE Select	ENSP00000221538.2:n.1653+326C>A
ENST00000221538.7:c.1653+326C>A	ENSP00000221538.2:n.1653+326C>A
ENST00000597055.1:c.1653+326C>A	ENSP00000472630.1:n.1653+326C>A
ENST00000600188.5:c.861+326C>A	ENSP00000471559.1:n.861+326C>A
NM_030785.3:c.1653+326C>A	NP_110412.1:n.1653+326C>A
XM_011527351.1:c.1653+326C>A	XP_011525653.1:n.1653+326C>A
XM_011527351.2:c.1653+326C>A	XP_011525653.1:n.1653+326C>A
NM_030785.4:c.1653+326C>A MANE Select	NP_110412.1:n.1653+326C>A