Canonical Allele Identifier: CA410362295

Gene: RSPH1

Linked Data

• MyVariant Identifiers: chr21:g.43896143C>G (hg19) ; chr21:g.42476033C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42476033C>G , CM000683.2:g.42476033C>G	GRCh38
NC_000021.8:g.43896143C>G , CM000683.1:g.43896143C>G	GRCh37
NC_000021.7:g.42769212C>G	NCBI36
NG_034257.1:g.25322G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291536.8:c.742G>C MANE Select	ENSP00000291536.3:p.Gly248Arg
ENST00000291536.7:c.742G>C	ENSP00000291536.3:p.Gly248Arg
ENST00000398352.3:c.628G>C	ENSP00000381395.3:p.Gly210Arg
ENST00000493019.1:n.2360G>C
NM_001286506.1:c.628G>C	NP_001273435.1:p.Gly210Arg
NM_080860.3:c.742G>C	NP_543136.1:p.Gly248Arg
XM_005261208.1:c.535G>C	XP_005261265.1:p.Gly179Arg
XM_011529786.1:c.670G>C	XP_011528088.1:p.Gly224Arg
XM_005261208.2:c.535G>C	XP_005261265.1:p.Gly179Arg
NM_080860.4:c.742G>C MANE Select	NP_543136.1:p.Gly248Arg
NM_001286506.2:c.628G>C	NP_001273435.1:p.Gly210Arg