Canonical Allele Identifier: CA2585868934
Gene: RSPH6A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804153T>A , CM000681.2:g.45804153T>A GRCh38
NC_000019.9:g.46307411T>A , CM000681.1:g.46307411T>A GRCh37
NC_000019.8:g.50999251T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000221538.8:c.1653+99A>T MANE Select ENSP00000221538.2:n.1653+99A>T
ENST00000221538.7:c.1653+99A>T ENSP00000221538.2:n.1653+99A>T
ENST00000597055.1:c.1653+99A>T ENSP00000472630.1:n.1653+99A>T
ENST00000600188.5:c.861+99A>T ENSP00000471559.1:n.861+99A>T
NM_030785.3:c.1653+99A>T NP_110412.1:n.1653+99A>T
XM_011527351.1:c.1653+99A>T XP_011525653.1:n.1653+99A>T
XM_011527351.2:c.1653+99A>T XP_011525653.1:n.1653+99A>T
NM_030785.4:c.1653+99A>T MANE Select NP_110412.1:n.1653+99A>T