Canonical Allele Identifier: CA406404951
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs1355674538

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804433G>A , CM000681.2:g.45804433G>A GRCh38
NC_000019.9:g.46307691G>A , CM000681.1:g.46307691G>A GRCh37
NC_000019.8:g.50999531G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1472C>T MANE Select ENSP00000221538.2:p.Ala491Val
ENST00000221538.7:c.1472C>T ENSP00000221538.2:p.Ala491Val
ENST00000597055.1:c.1472C>T ENSP00000472630.1:p.Ala491Val
ENST00000600188.5:c.680C>T ENSP00000471559.1:p.Ala227Val
NM_030785.3:c.1472C>T NP_110412.1:p.Ala491Val
XM_011527351.1:c.1472C>T XP_011525653.1:p.Ala491Val
XM_011527351.2:c.1472C>T XP_011525653.1:p.Ala491Val
NM_030785.4:c.1472C>T MANE Select NP_110412.1:p.Ala491Val