Canonical Allele Identifier: CA410365957

Gene: RSPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42485793C>A , CM000683.2:g.42485793C>A	GRCh38
NC_000021.8:g.43905903C>A , CM000683.1:g.43905903C>A	GRCh37
NC_000021.7:g.42778972C>A	NCBI36
NG_034257.1:g.15562G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_080860.4:c.377G>T MANE Select	NP_543136.1:p.Gly126Val
ENST00000291536.8:c.377G>T MANE Select	ENSP00000291536.3:p.Gly126Val
NM_001286506.1:c.263G>T	NP_001273435.1:p.Gly88Val
NM_001286506.2:c.263G>T	NP_001273435.1:p.Gly88Val
NM_080860.3:c.377G>T	NP_543136.1:p.Gly126Val
ENST00000291536.7:c.377G>T	ENSP00000291536.3:p.Gly126Val
ENST00000398352.3:c.263G>T	ENSP00000381395.3:p.Gly88Val
ENST00000493019.1:n.1003G>T
XM_005261208.1:c.170G>T	XP_005261265.1:p.Gly57Val
XM_005261208.2:c.170G>T	XP_005261265.1:p.Gly57Val
XM_011529786.1:c.377G>T	XP_011528088.1:p.Gly126Val