Canonical Allele Identifier: CA406404985
Gene: RSPH6A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804452T>G , CM000681.2:g.45804452T>G GRCh38
NC_000019.9:g.46307710T>G , CM000681.1:g.46307710T>G GRCh37
NC_000019.8:g.50999550T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1453A>C MANE Select ENSP00000221538.2:p.Ile485Leu
ENST00000221538.7:c.1453A>C ENSP00000221538.2:p.Ile485Leu
ENST00000597055.1:c.1453A>C ENSP00000472630.1:p.Ile485Leu
ENST00000600188.5:c.661A>C ENSP00000471559.1:p.Ile221Leu
NM_030785.3:c.1453A>C NP_110412.1:p.Ile485Leu
XM_011527351.1:c.1453A>C XP_011525653.1:p.Ile485Leu
XM_011527351.2:c.1453A>C XP_011525653.1:p.Ile485Leu
NM_030785.4:c.1453A>C MANE Select NP_110412.1:p.Ile485Leu