Canonical Allele Identifier: CA10044020

Gene: RSPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42492836G>A , CM000683.2:g.42492836G>A	GRCh38
NC_000021.8:g.43912946G>A , CM000683.1:g.43912946G>A	GRCh37
NC_000021.7:g.42786015G>A	NCBI36
NG_034257.1:g.8519C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_080860.4:c.196C>T MANE Select	NP_543136.1:p.Arg66Ter
ENST00000291536.8:c.196C>T MANE Select	ENSP00000291536.3:p.Arg66Ter
NM_001286506.1:c.82C>T	NP_001273435.1:p.Arg28Ter
NM_001286506.2:c.82C>T	NP_001273435.1:p.Arg28Ter
NM_080860.3:c.196C>T	NP_543136.1:p.Arg66Ter
ENST00000291536.7:c.196C>T	ENSP00000291536.3:p.Arg66Ter
ENST00000398352.3:c.82C>T	ENSP00000381395.3:p.Arg28Ter
ENST00000493019.1:n.256C>T
XM_005261208.1:c.67+3284C>T	XP_005261265.1:n.67+3284C>T
XM_005261208.2:c.67+3284C>T	XP_005261265.1:n.67+3284C>T
XM_011529786.1:c.196C>T	XP_011528088.1:p.Arg66Ter