Canonical Allele Identifier: CA222847

Gene: UNC119

Linked Data

• ClinVar Variation Id: 95260
• ClinVar RCV Id: RCV000081273
• dbSNP Id: rs142549864
• ExAC: 17:26874705 G / A
• gnomAD v2: 17-26874705-G-A
• gnomAD v3: 17-28547687-G-A
• gnomAD v4: 17-28547687-G-A
• MyVariant Identifiers: chr17:g.26874705G>A (hg19) ; chr17:g.28547687G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28547687G>A , CM000679.2:g.28547687G>A	GRCh38
NC_000017.10:g.26874705G>A , CM000679.1:g.26874705G>A	GRCh37
NC_000017.9:g.23898832G>A	NCBI36
NG_012302.1:g.9942C>T , LRG_341:g.9942C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335765.9:c.600C>T MANE Select	ENSP00000337040.3:p.Ser200=
ENST00000301032.8:c.600C>T	ENSP00000301032.4:p.Ser200=
ENST00000335765.8:c.600C>T	ENSP00000337040.3:p.Ser200=
ENST00000444148.1:c.579C>T	ENSP00000414639.1:p.Ser193=
ENST00000470125.5:c.315C>T	ENSP00000465323.1:p.Ser105=
ENST00000481916.6:c.*1195+56364C>T	ENSP00000436369.2:n.*1195+56364C>T
ENST00000484980.5:c.315C>T	ENSP00000466831.1:p.Ser105=
ENST00000581945.1:c.375C>T
NM_005148.3:c.600C>T , LRG_341t1:c.600C>T	NP_005139.1:p.Ser200=
NM_054035.2:c.600C>T , LRG_341t2:c.600C>T	NP_473376.1:p.Ser200=
NM_001330166.1:c.315C>T	NP_001317095.1:p.Ser105=
NM_001330166.2:c.315C>T	NP_001317095.1:p.Ser105=
NM_005148.4:c.600C>T MANE Select	NP_005139.1:p.Ser200=