Canonical Allele Identifier: CA6908320

Gene: SKA3 MRPL57

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.21176452C>T , CM000675.2:g.21176452C>T	GRCh38
NC_000013.10:g.21750591C>T , CM000675.1:g.21750591C>T	GRCh37
NC_000013.9:g.20648591C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_145061.6:c.26G>A (SKA3) MANE Select	NP_659498.4:p.Gly9Glu
ENST00000314759.6:c.26G>A (SKA3) MANE Select	ENSP00000319417.5:p.Gly9Glu
NM_001166017.1:c.26G>A (SKA3)	NP_001159489.1:p.Gly9Glu
NM_001166017.2:c.26G>A (SKA3)	NP_001159489.1:p.Gly9Glu
NM_024026.4:c.-271C>T (MRPL57)	NP_076931.1:n.-271C>T
NM_145061.5:c.26G>A (SKA3)	NP_659498.4:p.Gly9Glu
ENST00000298260.8:c.26G>A (SKA3)	ENSP00000298260.4:p.Gly9Glu
ENST00000314759.5:c.26G>A (SKA3)	ENSP00000319417.5:p.Gly9Glu
ENST00000400018.7:c.26G>A (SKA3)	ENSP00000382896.3:p.Gly9Glu
ENST00000462482.1:c.26G>A (SKA3)	ENSP00000443543.1:p.Gly9Glu
ENST00000465471.5:c.26G>A (SKA3)	ENSP00000441632.1:p.Gly9Glu
ENST00000475251.1:n.22G>A (SKA3)
XM_005266288.4:c.-159G>A (SKA3)	XP_005266345.1:n.-159G>A
XM_011534994.1:c.-122G>A (SKA3)	XP_011533296.1:n.-122G>A
XM_011534994.2:c.-122G>A (SKA3)	XP_011533296.1:n.-122G>A