Canonical Allele Identifier: CA350773421

Gene: UNC80

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.209943414G>A , CM000664.2:g.209943414G>A	GRCh38
NC_000002.11:g.210808138G>A , CM000664.1:g.210808138G>A	GRCh37
NC_000002.10:g.210516383G>A	NCBI36
NG_051361.1:g.176490G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001371986.1:c.6950G>A MANE Select	NP_001358915.1:p.Arg2317His
ENST00000673920.1:c.6950G>A MANE Select	ENSP00000501211.1:p.Arg2317His
NM_032504.1:c.6752G>A	NP_115893.1:p.Arg2251His
NM_032504.2:c.6752G>A	NP_115893.1:p.Arg2251His
NM_182587.3:c.6737G>A	NP_872393.3:p.Arg2246His
NM_182587.4:c.6737G>A	NP_872393.3:p.Arg2246His
ENST00000272845.10:c.6737G>A	ENSP00000272845.5:p.Arg2246His
ENST00000439458.5:c.6752G>A	ENSP00000391088.1:p.Arg2251His
ENST00000489023.5:n.4277G>A
ENST00000673951.1:c.6746G>A	ENSP00000501012.1:p.Arg2249His
XM_005246476.1:c.6947G>A	XP_005246533.1:p.Arg2316His
XM_011511004.1:c.6992G>A	XP_011509306.1:p.Arg2331His
XM_011511005.1:c.6989G>A	XP_011509307.1:p.Arg2330His
XM_011511006.1:c.6986G>A	XP_011509308.1:p.Arg2329His
XM_011511007.1:c.6956G>A	XP_011509309.1:p.Arg2319His
XM_011511008.1:c.6992G>A	XP_011509310.1:p.Arg2331His
XM_011511009.1:c.6992G>A	XP_011509311.1:p.Arg2331His
XM_011511010.1:c.6992G>A	XP_011509312.1:p.Arg2331His
XM_011511010.2:c.6992G>A	XP_011509312.1:p.Arg2331His
XM_011511011.1:c.6992G>A	XP_011509313.1:p.Arg2331His
XM_017003884.1:c.6977G>A	XP_016859373.1:p.Arg2326His
XM_017003885.1:c.6950G>A	XP_016859374.1:p.Arg2317His
XM_017003886.1:c.6992G>A	XP_016859375.1:p.Arg2331His
XM_017003887.1:c.6788G>A	XP_016859376.1:p.Arg2263His
XM_017003888.1:c.6746G>A	XP_016859377.1:p.Arg2249His
XM_017003889.1:c.6743G>A	XP_016859378.1:p.Arg2248His
XM_017003890.1:c.6731G>A	XP_016859379.1:p.Arg2244His
XM_017003891.1:c.6638G>A	XP_016859380.1:p.Arg2213His
XM_017003892.1:c.4475G>A	XP_016859381.1:p.Arg1492His
XM_017003894.1:c.3176G>A	XP_016859383.1:p.Arg1059His
XR_002959283.1:n.7072G>A