Canonical Allele Identifier: CA996343025

Gene: RSPH6A

Linked Data

• dbSNP Id: rs2079223360
• gnomAD v3: 19-45804138-A-G
• gnomAD v4: 19-45804138-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804138A>G , CM000681.2:g.45804138A>G	GRCh38
NC_000019.9:g.46307396A>G , CM000681.1:g.46307396A>G	GRCh37
NC_000019.8:g.50999236A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+114T>C MANE Select	ENSP00000221538.2:n.1653+114T>C
ENST00000221538.7:c.1653+114T>C	ENSP00000221538.2:n.1653+114T>C
ENST00000597055.1:c.1653+114T>C	ENSP00000472630.1:n.1653+114T>C
ENST00000600188.5:c.861+114T>C	ENSP00000471559.1:n.861+114T>C
NM_030785.3:c.1653+114T>C	NP_110412.1:n.1653+114T>C
XM_011527351.1:c.1653+114T>C	XP_011525653.1:n.1653+114T>C
XM_011527351.2:c.1653+114T>C	XP_011525653.1:n.1653+114T>C
NM_030785.4:c.1653+114T>C MANE Select	NP_110412.1:n.1653+114T>C