Canonical Allele Identifier: CA343964858

Gene: RO60

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193076971G>A , CM000663.2:g.193076971G>A	GRCh38
NC_000001.10:g.193046101G>A , CM000663.1:g.193046101G>A	GRCh37
NC_000001.9:g.191312724G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001173524.2:c.1007G>A MANE Select	NP_001166995.1:p.Gly336Asp
ENST00000400968.7:c.1007G>A MANE Select	ENSP00000383752.2:p.Gly336Asp
NM_001042369.2:c.1007G>A	NP_001035828.1:p.Gly336Asp
NM_001042370.2:c.1007G>A	NP_001035829.2:p.Gly336Asp
NM_001173524.1:c.1007G>A	NP_001166995.1:p.Gly336Asp
NM_001173525.1:c.1007G>A	NP_001166996.1:p.Gly336Asp
NM_001331020.1:c.182G>A	NP_001317949.1:p.Gly61Asp
NM_001331020.2:c.182G>A	NP_001317949.1:p.Gly61Asp
NM_004600.5:c.1007G>A	NP_004591.2:p.Gly336Asp
NR_033393.1:n.782G>A
ENST00000367441.1:c.1007G>A	ENSP00000356411.1:p.Gly336Asp
ENST00000367443.5:c.1007G>A	ENSP00000356413.1:p.Gly336Asp
ENST00000367444.7:c.1007G>A	ENSP00000356414.3:p.Gly336Asp
ENST00000367445.7:c.1007G>A	ENSP00000356415.3:p.Gly336Asp
ENST00000367446.7:c.1007G>A	ENSP00000356416.3:p.Gly336Asp
ENST00000400968.6:c.1007G>A	ENSP00000383752.2:p.Gly336Asp
ENST00000432079.5:c.182G>A	ENSP00000472298.1:p.Gly61Asp
ENST00000460715.2:n.360G>A
XM_006711495.2:c.1073G>A	XP_006711558.1:p.Gly358Asp
XM_006711495.4:c.1073G>A	XP_006711558.1:p.Gly358Asp
XM_006711496.2:c.1073G>A	XP_006711559.1:p.Gly358Asp
XM_006711496.3:c.1073G>A	XP_006711559.1:p.Gly358Asp
XM_006711497.2:c.1007G>A	XP_006711560.1:p.Gly336Asp
XM_006711497.3:c.1007G>A	XP_006711560.1:p.Gly336Asp
XM_011509920.1:c.1073G>A	XP_011508222.1:p.Gly358Asp
XM_011509921.1:c.182G>A	XP_011508223.1:p.Gly61Asp
XM_011509922.1:c.182G>A	XP_011508224.1:p.Gly61Asp
XM_011509922.2:c.182G>A	XP_011508224.1:p.Gly61Asp
XM_017002180.1:c.1073G>A	XP_016857669.1:p.Gly358Asp
XM_017002181.2:c.1007G>A	XP_016857670.1:p.Gly336Asp
XM_017002182.1:c.1007G>A	XP_016857671.1:p.Gly336Asp
XM_017002183.1:c.182G>A	XP_016857672.1:p.Gly61Asp
XM_024449332.1:c.1007G>A	XP_024305100.1:p.Gly336Asp