Canonical Allele Identifier: CA6145358
Gene: UNC93B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 537932
ClinVar RCV Id: RCV000647028 RCV003488759
dbSNP Id: rs7149
ExAC: 11:67759254 G / C
gnomAD v2: 11-67759254-G-C
gnomAD v3: 11-67991783-G-C
gnomAD v4: 11-67991783-G-C
MyVariant Identifiers: chr11:g.67759254G>C (hg19) chr11:g.67991783G>C (hg38)
Allelic Epigenome: Alellic Epigenome (raw data)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67991783G>C , CM000673.2:g.67991783G>C GRCh38
NC_000011.9:g.67759254G>C , CM000673.1:g.67759254G>C GRCh37
NC_000011.8:g.67515830G>C NCBI36
NG_007581.1:g.17341C>G , LRG_123:g.17341C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000227471.7:c.1557C>G MANE Select ENSP00000227471.3:p.Arg519=
ENST00000227471.6:c.1557C>G ENSP00000227471.3:p.Arg519=
ENST00000610659.4:n.255-421C>G
NM_030930.3:c.1557C>G NP_112192.2:p.Arg519=
XM_011545290.1:c.1146C>G XP_011543592.1:p.Arg382=
XM_011545291.1:c.1002C>G XP_011543593.1:p.Arg334=
XM_011545291.2:c.1002C>G XP_011543593.1:p.Arg334=
NM_030930.4:c.1557C>G MANE Select NP_112192.2:p.Arg519=
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