Canonical Allele Identifier: CA2338614964
Gene: RSPH6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804305G= , CM000681.2:g.45804305G= GRCh38
NC_000019.9:g.46307563G= , CM000681.1:g.46307563G= GRCh37
NC_000019.8:g.50999403G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1600C= MANE Select ENSP00000221538.2:p.Leu534=
ENST00000221538.7:c.1600C= ENSP00000221538.2:p.Leu534=
ENST00000597055.1:c.1600C= ENSP00000472630.1:p.Leu534=
ENST00000600188.5:c.808C= ENSP00000471559.1:p.Leu270=
NM_030785.3:c.1600C= NP_110412.1:p.Leu534=
XM_011527351.1:c.1600C= XP_011525653.1:p.Leu534=
XM_011527351.2:c.1600C= XP_011525653.1:p.Leu534=
NM_030785.4:c.1600C= MANE Select NP_110412.1:p.Leu534=