Canonical Allele Identifier: CA2838383351

Gene: RIMOC1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41904550G>C , CM000667.2:g.41904550G>C	GRCh38
NC_000005.9:g.41904652G>C , CM000667.1:g.41904652G>C	GRCh37
NC_000005.8:g.41940409G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381647.7:c.100+83G>C MANE Select	ENSP00000371061.2:n.100+83G>C
ENST00000381647.6:c.100+83G>C	ENSP00000371061.2:n.100+83G>C
ENST00000505931.6:n.91+272G>C
ENST00000509976.1:n.97+83G>C
ENST00000612065.1:c.100+83G>C	ENSP00000481500.1:n.100+83G>C
NM_175921.4:c.100+83G>C	NP_787117.3:n.100+83G>C
XM_005248289.3:c.100+83G>C	XP_005248346.1:n.100+83G>C
XM_011514032.1:c.-243+83G>C	XP_011512334.1:n.-243+83G>C
NM_175921.5:c.100+83G>C	NP_787117.3:n.100+83G>C
XM_005248289.4:c.100+83G>C	XP_005248346.1:n.100+83G>C
XM_011514032.2:c.-243+83G>C	XP_011512334.1:n.-243+83G>C
XR_001742054.1:n.151+83G>C
NM_175921.6:c.100+83G>C MANE Select	NP_787117.3:n.100+83G>C