Canonical Allele Identifier: CA144906

Gene: RSPH1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42493049C>A , CM000683.2:g.42493049C>A	GRCh38
NC_000021.8:g.43913159C>A , CM000683.1:g.43913159C>A	GRCh37
NC_000021.7:g.42786228C>A	NCBI36
NG_034257.1:g.8306G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291536.8:c.85G>T MANE Select	ENSP00000291536.3:p.Glu29Ter
ENST00000291536.7:c.85G>T	ENSP00000291536.3:p.Glu29Ter
ENST00000398352.3:c.55-186G>T	ENSP00000381395.3:n.55-186G>T
ENST00000493019.1:n.145G>T
NM_001286506.1:c.55-186G>T	NP_001273435.1:n.55-186G>T
NM_080860.3:c.85G>T	NP_543136.1:p.Glu29Ter
XM_005261208.1:c.67+3071G>T	XP_005261265.1:n.67+3071G>T
XM_011529786.1:c.85G>T	XP_011528088.1:p.Glu29Ter
XM_005261208.2:c.67+3071G>T	XP_005261265.1:n.67+3071G>T
NM_080860.4:c.85G>T MANE Select	NP_543136.1:p.Glu29Ter
NM_001286506.2:c.55-186G>T	NP_001273435.1:n.55-186G>T