Canonical Allele Identifier: CA9522662
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs769052549
ExAC: 19:46307688 G / A
gnomAD v2: 19-46307688-G-A
gnomAD v3: 19-45804430-G-A
gnomAD v4: 19-45804430-G-A
COSMIC: COSM4722940
MyVariant Identifiers: chr19:g.46307688G>A (hg19) chr19:g.45804430G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804430G>A , CM000681.2:g.45804430G>A GRCh38
NC_000019.9:g.46307688G>A , CM000681.1:g.46307688G>A GRCh37
NC_000019.8:g.50999528G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1475C>T MANE Select ENSP00000221538.2:p.Thr492Met
ENST00000221538.7:c.1475C>T ENSP00000221538.2:p.Thr492Met
ENST00000597055.1:c.1475C>T ENSP00000472630.1:p.Thr492Met
ENST00000600188.5:c.683C>T ENSP00000471559.1:p.Thr228Met
NM_030785.3:c.1475C>T NP_110412.1:p.Thr492Met
XM_011527351.1:c.1475C>T XP_011525653.1:p.Thr492Met
XM_011527351.2:c.1475C>T XP_011525653.1:p.Thr492Met
NM_030785.4:c.1475C>T MANE Select NP_110412.1:p.Thr492Met
Search 100 bp 5'
Search 100 bp 3'