Canonical Allele Identifier: CA2254361122
Gene: UNC119 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.28552289A= , CM000679.2:g.28552289A= GRCh38
NC_000017.10:g.26879307A= , CM000679.1:g.26879307A= GRCh37
NC_000017.9:g.23903434A= NCBI36
NG_012302.1:g.5340T= , LRG_341:g.5340T=

Transcript Alleles

HGVS Amino-acid change
ENST00000335765.9:c.220+49T= MANE Select ENSP00000337040.3:n.220+49T=
ENST00000301032.8:c.220+49T= ENSP00000301032.4:n.220+49T=
ENST00000335765.8:c.220+49T= ENSP00000337040.3:n.220+49T=
ENST00000444148.1:c.220+49T= ENSP00000414639.1:n.220+49T=
ENST00000481916.6:c.*1195+51762T= ENSP00000436369.2:n.*1195+51762T=
ENST00000578434.1:n.288+49T=
ENST00000581945.1:c.212+49T=
NM_005148.3:c.220+49T= , LRG_341t1:c.220+49T= NP_005139.1:n.220+49T=
NM_054035.2:c.220+49T= , LRG_341t2:c.220+49T= NP_473376.1:n.220+49T=
XM_011525459.1:c.220+49T= XP_011523761.1:n.220+49T=
NM_001330166.1:c.-94+49T= NP_001317095.1:n.-94+49T=
XM_011525459.2:c.220+49T= XP_011523761.1:n.220+49T=
NM_001330166.2:c.-94+49T= NP_001317095.1:n.-94+49T=
NM_005148.4:c.220+49T= MANE Select NP_005139.1:n.220+49T=