Canonical Allele Identifier: CA4860308

Gene: MRPL13

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.120414045C>T , CM000670.2:g.120414045C>T	GRCh38
NC_000008.10:g.121426284C>T , CM000670.1:g.121426284C>T	GRCh37
NC_000008.9:g.121495465C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014078.6:c.461G>A MANE Select	NP_054797.2:p.Arg154His
ENST00000306185.8:c.461G>A MANE Select	ENSP00000306548.3:p.Arg154His
NM_014078.5:c.461G>A	NP_054797.2:p.Arg154His
ENST00000306185.7:c.461G>A	ENSP00000306548.3:p.Arg154His
ENST00000518696.5:c.*190G>A	ENSP00000428867.1:n.*190G>A
ENST00000518918.1:c.389G>A	ENSP00000430545.1:p.Arg130His
ENST00000521648.5:c.68G>A	ENSP00000428229.1:p.Arg23His
ENST00000522717.1:n.147G>A
ENST00000613356.1:n.2035G>A
XM_006716547.1:c.389G>A	XP_006716610.1:p.Arg130His