Canonical Allele Identifier: CA2254361094
Gene: UNC119 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.28552260G= , CM000679.2:g.28552260G= GRCh38
NC_000017.10:g.26879278G= , CM000679.1:g.26879278G= GRCh37
NC_000017.9:g.23903405G= NCBI36
NG_012302.1:g.5369C= , LRG_341:g.5369C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000335765.9:c.220+78C= MANE Select ENSP00000337040.3:n.220+78C=
ENST00000301032.8:c.220+78C= ENSP00000301032.4:n.220+78C=
ENST00000335765.8:c.220+78C= ENSP00000337040.3:n.220+78C=
ENST00000444148.1:c.220+78C= ENSP00000414639.1:n.220+78C=
ENST00000481916.6:c.*1195+51791C= ENSP00000436369.2:n.*1195+51791C=
ENST00000578434.1:n.288+78C=
ENST00000581945.1:c.212+78C=
NM_005148.3:c.220+78C= , LRG_341t1:c.220+78C= NP_005139.1:n.220+78C=
NM_054035.2:c.220+78C= , LRG_341t2:c.220+78C= NP_473376.1:n.220+78C=
XM_011525459.1:c.220+78C= XP_011523761.1:n.220+78C=
NM_001330166.1:c.-94+78C= NP_001317095.1:n.-94+78C=
XM_011525459.2:c.220+78C= XP_011523761.1:n.220+78C=
NM_001330166.2:c.-94+78C= NP_001317095.1:n.-94+78C=
NM_005148.4:c.220+78C= MANE Select NP_005139.1:n.220+78C=