Canonical Allele Identifier: CA2338614988
Gene: RSPH6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804353C= , CM000681.2:g.45804353C= GRCh38
NC_000019.9:g.46307611C= , CM000681.1:g.46307611C= GRCh37
NC_000019.8:g.50999451C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1552G= MANE Select ENSP00000221538.2:p.Asp518=
ENST00000221538.7:c.1552G= ENSP00000221538.2:p.Asp518=
ENST00000597055.1:c.1552G= ENSP00000472630.1:p.Asp518=
ENST00000600188.5:c.760G= ENSP00000471559.1:p.Asp254=
NM_030785.3:c.1552G= NP_110412.1:p.Asp518=
XM_011527351.1:c.1552G= XP_011525653.1:p.Asp518=
XM_011527351.2:c.1552G= XP_011525653.1:p.Asp518=
NM_030785.4:c.1552G= MANE Select NP_110412.1:p.Asp518=