Canonical Allele Identifier: CA321555688

Gene: RSPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42485794C>T , CM000683.2:g.42485794C>T	GRCh38
NC_000021.8:g.43905904C>T , CM000683.1:g.43905904C>T	GRCh37
NC_000021.7:g.42778973C>T	NCBI36
NG_034257.1:g.15561G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_080860.4:c.376G>A MANE Select	NP_543136.1:p.Gly126Ser
ENST00000291536.8:c.376G>A MANE Select	ENSP00000291536.3:p.Gly126Ser
NM_001286506.1:c.262G>A	NP_001273435.1:p.Gly88Ser
NM_001286506.2:c.262G>A	NP_001273435.1:p.Gly88Ser
NM_080860.3:c.376G>A	NP_543136.1:p.Gly126Ser
ENST00000291536.7:c.376G>A	ENSP00000291536.3:p.Gly126Ser
ENST00000398352.3:c.262G>A	ENSP00000381395.3:p.Gly88Ser
ENST00000493019.1:n.1002G>A
XM_005261208.1:c.169G>A	XP_005261265.1:p.Gly57Ser
XM_005261208.2:c.169G>A	XP_005261265.1:p.Gly57Ser
XM_011529786.1:c.376G>A	XP_011528088.1:p.Gly126Ser