Canonical Allele Identifier: CA10044069

Gene: RSPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42493040C>G , CM000683.2:g.42493040C>G	GRCh38
NC_000021.8:g.43913150C>G , CM000683.1:g.43913150C>G	GRCh37
NC_000021.7:g.42786219C>G	NCBI36
NG_034257.1:g.8315G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_080860.4:c.94G>C MANE Select	NP_543136.1:p.Gly32Arg
ENST00000291536.8:c.94G>C MANE Select	ENSP00000291536.3:p.Gly32Arg
NM_001286506.1:c.55-177G>C	NP_001273435.1:n.55-177G>C
NM_001286506.2:c.55-177G>C	NP_001273435.1:n.55-177G>C
NM_080860.3:c.94G>C	NP_543136.1:p.Gly32Arg
ENST00000291536.7:c.94G>C	ENSP00000291536.3:p.Gly32Arg
ENST00000398352.3:c.55-177G>C	ENSP00000381395.3:n.55-177G>C
ENST00000493019.1:n.154G>C
XM_005261208.1:c.67+3080G>C	XP_005261265.1:n.67+3080G>C
XM_005261208.2:c.67+3080G>C	XP_005261265.1:n.67+3080G>C
XM_011529786.1:c.94G>C	XP_011528088.1:p.Gly32Arg