Canonical Allele Identifier: CA4075855

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158982533A>G , CM000668.2:g.158982533A>G	GRCh38
NC_000006.11:g.159403565A>G , CM000668.1:g.159403565A>G	GRCh37
NC_000006.10:g.159323553A>G	NCBI36
NG_051819.1:g.22655T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.648T>C MANE Select	NP_114130.4:p.Ala216=
ENST00000367069.7:c.648T>C MANE Select	ENSP00000356036.1:p.Ala216=
NM_001346418.1:c.786T>C	NP_001333347.1:p.Ala262=
NM_031924.4:c.1074T>C	NP_114130.3:p.Ala358=
NM_031924.5:c.1074T>C	NP_114130.3:p.Ala358=
NM_031924.6:c.1074T>C	NP_114130.3:p.Ala358=
NR_144434.1:n.1285T>C
ENST00000252655.1:c.1074T>C	ENSP00000252655.1:p.Ala358=
ENST00000367069.6:c.648T>C	ENSP00000356036.1:p.Ala216=
ENST00000449822.5:c.360T>C	ENSP00000393195.1:p.Ala120=
XM_005267153.3:c.786T>C	XP_005267210.1:p.Ala262=
XM_017011347.2:c.258T>C	XP_016866836.1:p.Ala86=
XM_024446566.1:c.258T>C	XP_024302334.1:p.Ala86=
XR_001743668.2:n.1524T>C
XR_001743669.2:n.1524T>C
XR_001743670.2:n.1236T>C
XR_001743671.2:n.730T>C
XR_245553.2:n.1530T>C