Canonical Allele Identifier: CA366284296

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158993894A>G , CM000668.2:g.158993894A>G	GRCh38
NC_000006.11:g.159414926A>G , CM000668.1:g.159414926A>G	GRCh37
NC_000006.10:g.159334914A>G	NCBI36
NG_051819.1:g.11294T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.149T>C MANE Select	NP_114130.4:p.Met50Thr
ENST00000367069.7:c.149T>C MANE Select	ENSP00000356036.1:p.Met50Thr
NM_001346418.1:c.575T>C	NP_001333347.1:p.Met192Thr
NM_031924.4:c.575T>C	NP_114130.3:p.Met192Thr
NM_031924.5:c.575T>C	NP_114130.3:p.Met192Thr
NM_031924.6:c.575T>C	NP_114130.3:p.Met192Thr
NR_144434.1:n.786T>C
ENST00000252655.1:c.575T>C	ENSP00000252655.1:p.Met192Thr
ENST00000367069.6:c.149T>C	ENSP00000356036.1:p.Met50Thr
ENST00000449822.5:c.149T>C	ENSP00000393195.1:p.Met50Thr
XM_005267153.3:c.575T>C	XP_005267210.1:p.Met192Thr
XM_017011347.2:c.-100T>C	XP_016866836.1:n.-100T>C
XM_024446566.1:c.-187+5541T>C	XP_024302334.1:n.-187+5541T>C
XR_001743668.2:n.1025T>C
XR_001743669.2:n.1025T>C
XR_001743670.2:n.1025T>C
XR_001743671.2:n.373T>C
XR_245553.2:n.1031T>C