Canonical Allele Identifier: CA2083409

Gene: UNC80

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.209941332T>C , CM000664.2:g.209941332T>C	GRCh38
NC_000002.11:g.210806056T>C , CM000664.1:g.210806056T>C	GRCh37
NC_000002.10:g.210514301T>C	NCBI36
NG_051361.1:g.174408T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001371986.1:c.6758T>C MANE Select	NP_001358915.1:p.Met2253Thr
ENST00000673920.1:c.6758T>C MANE Select	ENSP00000501211.1:p.Met2253Thr
NM_032504.1:c.6560T>C	NP_115893.1:p.Met2187Thr
NM_032504.2:c.6560T>C	NP_115893.1:p.Met2187Thr
NM_182587.3:c.6545T>C	NP_872393.3:p.Met2182Thr
NM_182587.4:c.6545T>C	NP_872393.3:p.Met2182Thr
ENST00000272845.10:c.6545T>C	ENSP00000272845.5:p.Met2182Thr
ENST00000439458.5:c.6560T>C	ENSP00000391088.1:p.Met2187Thr
ENST00000489023.5:n.4085T>C
ENST00000673951.1:c.6554T>C	ENSP00000501012.1:p.Met2185Thr
XM_005246476.1:c.6755T>C	XP_005246533.1:p.Met2252Thr
XM_011511004.1:c.6800T>C	XP_011509306.1:p.Met2267Thr
XM_011511005.1:c.6797T>C	XP_011509307.1:p.Met2266Thr
XM_011511006.1:c.6794T>C	XP_011509308.1:p.Met2265Thr
XM_011511007.1:c.6764T>C	XP_011509309.1:p.Met2255Thr
XM_011511008.1:c.6800T>C	XP_011509310.1:p.Met2267Thr
XM_011511009.1:c.6800T>C	XP_011509311.1:p.Met2267Thr
XM_011511010.1:c.6800T>C	XP_011509312.1:p.Met2267Thr
XM_011511010.2:c.6800T>C	XP_011509312.1:p.Met2267Thr
XM_011511011.1:c.6800T>C	XP_011509313.1:p.Met2267Thr
XM_017003884.1:c.6785T>C	XP_016859373.1:p.Met2262Thr
XM_017003885.1:c.6758T>C	XP_016859374.1:p.Met2253Thr
XM_017003886.1:c.6800T>C	XP_016859375.1:p.Met2267Thr
XM_017003887.1:c.6596T>C	XP_016859376.1:p.Met2199Thr
XM_017003888.1:c.6554T>C	XP_016859377.1:p.Met2185Thr
XM_017003889.1:c.6551T>C	XP_016859378.1:p.Met2184Thr
XM_017003890.1:c.6539T>C	XP_016859379.1:p.Met2180Thr
XM_017003891.1:c.6446T>C	XP_016859380.1:p.Met2149Thr
XM_017003892.1:c.4283T>C	XP_016859381.1:p.Met1428Thr
XM_017003894.1:c.2984T>C	XP_016859383.1:p.Met995Thr
XR_002959283.1:n.6880T>C