Canonical Allele Identifier: CA406405008
Gene: RSPH6A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804464G>C , CM000681.2:g.45804464G>C GRCh38
NC_000019.9:g.46307722G>C , CM000681.1:g.46307722G>C GRCh37
NC_000019.8:g.50999562G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1441C>G MANE Select ENSP00000221538.2:p.Leu481Val
ENST00000221538.7:c.1441C>G ENSP00000221538.2:p.Leu481Val
ENST00000597055.1:c.1441C>G ENSP00000472630.1:p.Leu481Val
ENST00000600188.5:c.649C>G ENSP00000471559.1:p.Leu217Val
NM_030785.3:c.1441C>G NP_110412.1:p.Leu481Val
XM_011527351.1:c.1441C>G XP_011525653.1:p.Leu481Val
XM_011527351.2:c.1441C>G XP_011525653.1:p.Leu481Val
NM_030785.4:c.1441C>G MANE Select NP_110412.1:p.Leu481Val