Canonical Allele Identifier: CA366280378

Gene: RSPH3

Linked Data

• MyVariant Identifiers: chr6:g.159403540C>G (hg19) ; chr6:g.158982508C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158982508C>G , CM000668.2:g.158982508C>G	GRCh38
NC_000006.11:g.159403540C>G , CM000668.1:g.159403540C>G	GRCh37
NC_000006.10:g.159323528C>G	NCBI36
NG_051819.1:g.22680G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367069.7:c.673G>C MANE Select	ENSP00000356036.1:p.Glu225Gln
ENST00000252655.1:c.1099G>C	ENSP00000252655.1:p.Glu367Gln
ENST00000367069.6:c.673G>C	ENSP00000356036.1:p.Glu225Gln
ENST00000449822.5:c.385G>C	ENSP00000393195.1:p.Glu129Gln
NM_031924.4:c.1099G>C	NP_114130.3:p.Glu367Gln
XM_005267153.3:c.811G>C	XP_005267210.1:p.Glu271Gln
XR_245553.2:n.1555G>C
NM_001346418.1:c.811G>C	NP_001333347.1:p.Glu271Gln
NM_031924.5:c.1099G>C	NP_114130.3:p.Glu367Gln
NR_144434.1:n.1310G>C
XM_017011347.2:c.283G>C	XP_016866836.1:p.Glu95Gln
XM_024446566.1:c.283G>C	XP_024302334.1:p.Glu95Gln
XR_001743668.2:n.1549G>C
XR_001743669.2:n.1549G>C
XR_001743670.2:n.1261G>C
XR_001743671.2:n.755G>C
NM_031924.6:c.1099G>C	NP_114130.3:p.Glu367Gln
NM_031924.8:c.673G>C MANE Select	NP_114130.4:p.Glu225Gln