Canonical Allele Identifier: CA406404841
Gene: RSPH6A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804385C>A , CM000681.2:g.45804385C>A GRCh38
NC_000019.9:g.46307643C>A , CM000681.1:g.46307643C>A GRCh37
NC_000019.8:g.50999483C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1520G>T MANE Select ENSP00000221538.2:p.Gly507Val
ENST00000221538.7:c.1520G>T ENSP00000221538.2:p.Gly507Val
ENST00000597055.1:c.1520G>T ENSP00000472630.1:p.Gly507Val
ENST00000600188.5:c.728G>T ENSP00000471559.1:p.Gly243Val
NM_030785.3:c.1520G>T NP_110412.1:p.Gly507Val
XM_011527351.1:c.1520G>T XP_011525653.1:p.Gly507Val
XM_011527351.2:c.1520G>T XP_011525653.1:p.Gly507Val
NM_030785.4:c.1520G>T MANE Select NP_110412.1:p.Gly507Val