Canonical Allele Identifier: CA607879887
Gene: UNC119B HGNC NCBI

Linked Data

dbSNP Id: rs2066938
gnomAD v2: 12-121160615-A-C
gnomAD v3: 12-120722812-A-C
gnomAD v4: 12-120722812-A-C
MyVariant Identifiers: chr12:g.121160615A>C (hg19) chr12:g.120722812A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120722812A>C , CM000674.2:g.120722812A>C GRCh38
NC_000012.11:g.121160615A>C , CM000674.1:g.121160615A>C GRCh37
NC_000012.10:g.119644998A>C NCBI36
NG_007991.1:g.2045A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000344651.5:c.*2780A>C MANE Select ENSP00000344942.4:n.*2780A>C
ENST00000344651.4:c.*2780A>C ENSP00000344942.4:n.*2780A>C
NM_001080533.2:c.*2780A>C NP_001074002.1:n.*2780A>C
NM_001080533.3:c.*2780A>C MANE Select NP_001074002.1:n.*2780A>C
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