Canonical Allele Identifier: CA9522658
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs772496044
ExAC: 19:46307667 A / C
gnomAD v2: 19-46307667-A-C
gnomAD v4: 19-45804409-A-C
MyVariant Identifiers: chr19:g.46307667A>C (hg19) chr19:g.45804409A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804409A>C , CM000681.2:g.45804409A>C GRCh38
NC_000019.9:g.46307667A>C , CM000681.1:g.46307667A>C GRCh37
NC_000019.8:g.50999507A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1496T>G MANE Select ENSP00000221538.2:p.Phe499Cys
ENST00000221538.7:c.1496T>G ENSP00000221538.2:p.Phe499Cys
ENST00000597055.1:c.1496T>G ENSP00000472630.1:p.Phe499Cys
ENST00000600188.5:c.704T>G ENSP00000471559.1:p.Phe235Cys
NM_030785.3:c.1496T>G NP_110412.1:p.Phe499Cys
XM_011527351.1:c.1496T>G XP_011525653.1:p.Phe499Cys
XM_011527351.2:c.1496T>G XP_011525653.1:p.Phe499Cys
NM_030785.4:c.1496T>G MANE Select NP_110412.1:p.Phe499Cys
Search 100 bp 5'
Search 100 bp 3'