Canonical Allele Identifier: CA9522641
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs760746284
ExAC: 19:46307614 G / A
gnomAD v2: 19-46307614-G-A
gnomAD v3: 19-45804356-G-A
gnomAD v4: 19-45804356-G-A
MyVariant Identifiers: chr19:g.46307614G>A (hg19) chr19:g.45804356G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804356G>A , CM000681.2:g.45804356G>A GRCh38
NC_000019.9:g.46307614G>A , CM000681.1:g.46307614G>A GRCh37
NC_000019.8:g.50999454G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1549C>T MANE Select ENSP00000221538.2:p.Arg517Cys
ENST00000221538.7:c.1549C>T ENSP00000221538.2:p.Arg517Cys
ENST00000597055.1:c.1549C>T ENSP00000472630.1:p.Arg517Cys
ENST00000600188.5:c.757C>T ENSP00000471559.1:p.Arg253Cys
NM_030785.3:c.1549C>T NP_110412.1:p.Arg517Cys
XM_011527351.1:c.1549C>T XP_011525653.1:p.Arg517Cys
XM_011527351.2:c.1549C>T XP_011525653.1:p.Arg517Cys
NM_030785.4:c.1549C>T MANE Select NP_110412.1:p.Arg517Cys
Search 100 bp 5'
Search 100 bp 3'