Canonical Allele Identifier: CA6145375
Gene: UNC93B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 470491
ClinVar RCV Id: RCV000544683 RCV003403317
dbSNP Id: rs199824078
ExAC: 11:67761176 C / T
gnomAD v2: 11-67761176-C-T
gnomAD v3: 11-67993705-C-T
gnomAD v4: 11-67993705-C-T
MyVariant Identifiers: chr11:g.67761176C>T (hg19) chr11:g.67993705C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67993705C>T , CM000673.2:g.67993705C>T GRCh38
NC_000011.9:g.67761176C>T , CM000673.1:g.67761176C>T GRCh37
NC_000011.8:g.67517752C>T NCBI36
NG_007581.1:g.15419G>A , LRG_123:g.15419G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000227471.7:c.1453G>A MANE Select ENSP00000227471.3:p.Val485Met
ENST00000227471.6:c.1453G>A ENSP00000227471.3:p.Val485Met
ENST00000525368.1:n.460G>A
ENST00000610659.4:n.255-2343G>A
NM_030930.3:c.1453G>A NP_112192.2:p.Val485Met
XM_011545290.1:c.1042G>A XP_011543592.1:p.Val348Met
XM_011545291.1:c.898G>A XP_011543593.1:p.Val300Met
XM_011545291.2:c.898G>A XP_011543593.1:p.Val300Met
NM_030930.4:c.1453G>A MANE Select NP_112192.2:p.Val485Met
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