Canonical Allele Identifier: CA406404797
Gene: RSPH6A HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.46307622C>A (hg19) chr19:g.45804364C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804364C>A , CM000681.2:g.45804364C>A GRCh38
NC_000019.9:g.46307622C>A , CM000681.1:g.46307622C>A GRCh37
NC_000019.8:g.50999462C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1541G>T MANE Select ENSP00000221538.2:p.Gly514Val
ENST00000221538.7:c.1541G>T ENSP00000221538.2:p.Gly514Val
ENST00000597055.1:c.1541G>T ENSP00000472630.1:p.Gly514Val
ENST00000600188.5:c.749G>T ENSP00000471559.1:p.Gly250Val
NM_030785.3:c.1541G>T NP_110412.1:p.Gly514Val
XM_011527351.1:c.1541G>T XP_011525653.1:p.Gly514Val
XM_011527351.2:c.1541G>T XP_011525653.1:p.Gly514Val
NM_030785.4:c.1541G>T MANE Select NP_110412.1:p.Gly514Val
Search 100 bp 5'
Search 100 bp 3'