Canonical Allele Identifier: CA350130548

Gene: UNC80

Linked Data

• MyVariant Identifiers: chr2:g.210640618T>A (hg19) ; chr2:g.209775894T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.209775894T>A , CM000664.2:g.209775894T>A	GRCh38
NC_000002.11:g.210640618T>A , CM000664.1:g.210640618T>A	GRCh37
NC_000002.10:g.210348863T>A	NCBI36
NG_051361.1:g.8970T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673920.1:c.147T>A MANE Select	ENSP00000501211.1:p.Phe49Leu
ENST00000673951.1:c.147T>A	ENSP00000501012.1:p.Phe49Leu
ENST00000272845.10:c.147T>A	ENSP00000272845.5:p.Phe49Leu
ENST00000439458.5:c.147T>A	ENSP00000391088.1:p.Phe49Leu
ENST00000478701.1:n.227T>A
NM_032504.1:c.147T>A	NP_115893.1:p.Phe49Leu
NM_182587.3:c.147T>A	NP_872393.3:p.Phe49Leu
XM_005246476.1:c.147T>A	XP_005246533.1:p.Phe49Leu
XM_011511004.1:c.147T>A	XP_011509306.1:p.Phe49Leu
XM_011511005.1:c.147T>A	XP_011509307.1:p.Phe49Leu
XM_011511006.1:c.147T>A	XP_011509308.1:p.Phe49Leu
XM_011511007.1:c.147T>A	XP_011509309.1:p.Phe49Leu
XM_011511008.1:c.147T>A	XP_011509310.1:p.Phe49Leu
XM_011511009.1:c.147T>A	XP_011509311.1:p.Phe49Leu
XM_011511010.1:c.147T>A	XP_011509312.1:p.Phe49Leu
XM_011511011.1:c.147T>A	XP_011509313.1:p.Phe49Leu
XM_011511012.1:c.147T>A	XP_011509314.1:p.Phe49Leu
XM_011511010.2:c.147T>A	XP_011509312.1:p.Phe49Leu
XM_017003884.1:c.147T>A	XP_016859373.1:p.Phe49Leu
XM_017003885.1:c.147T>A	XP_016859374.1:p.Phe49Leu
XM_017003886.1:c.147T>A	XP_016859375.1:p.Phe49Leu
XM_017003887.1:c.147T>A	XP_016859376.1:p.Phe49Leu
XM_017003888.1:c.147T>A	XP_016859377.1:p.Phe49Leu
XM_017003889.1:c.147T>A	XP_016859378.1:p.Phe49Leu
XM_017003890.1:c.147T>A	XP_016859379.1:p.Phe49Leu
XM_017003891.1:c.-208T>A	XP_016859380.1:n.-208T>A
XM_017003893.1:c.147T>A	XP_016859382.1:p.Phe49Leu
XR_002959283.1:n.227T>A
NM_001371986.1:c.147T>A MANE Select	NP_001358915.1:p.Phe49Leu
NM_182587.4:c.147T>A	NP_872393.3:p.Phe49Leu
NM_032504.2:c.147T>A	NP_115893.1:p.Phe49Leu