Canonical Allele Identifier: CA364278540

Gene: RSPH9 POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43670917G>T , CM000668.2:g.43670917G>T	GRCh38
NC_000006.11:g.43638654G>T , CM000668.1:g.43638654G>T	GRCh37
NC_000006.10:g.43746632G>T	NCBI36
NG_023436.1:g.30888G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152732.5:c.799G>T (RSPH9) MANE Select	NP_689945.2:p.Glu267Ter
ENST00000372163.5:c.799G>T (RSPH9) MANE Select	ENSP00000361236.4:p.Glu267Ter
NM_001193341.1:c.851G>T (RSPH9)	NP_001180270.1:p.Arg284Leu
NM_001193341.2:c.851G>T (RSPH9)	NP_001180270.1:p.Arg284Leu
NM_001318876.2:c.945+141646G>T (POLR1C)	NP_001305805.1:n.945+141646G>T
NM_152732.4:c.799G>T (RSPH9)	NP_689945.2:p.Glu267Ter
ENST00000372163.4:c.799G>T (RSPH9)	ENSP00000361236.4:p.Glu267Ter
ENST00000372165.8:c.851G>T (RSPH9)	ENSP00000361238.4:p.Arg284Leu
XM_005248901.2:c.896G>T (RSPH9)	XP_005248958.1:p.Arg299Leu
XM_005248901.3:c.896G>T (RSPH9)	XP_005248958.1:p.Arg299Leu
XR_002956268.1:n.889G>T (RSPH9)
XR_002956269.1:n.799G>T (RSPH9)