Canonical Allele Identifier: CA475512621

Gene: UNC93B1

Linked Data

• ClinVar Variation Id: 470496
• ClinVar RCV Id: RCV000537555 ; RCV001506244
• dbSNP Id: rs1365228419
• gnomAD v2: 11-67771182-G-A
• gnomAD v3: 11-68003712-G-A
• gnomAD v4: 11-68003712-G-A
• MyVariant Identifiers: chr11:g.67771182G>A (hg19) ; chr11:g.68003712G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68003712G>A , CM000673.2:g.68003712G>A	GRCh38
NC_000011.9:g.67771182G>A , CM000673.1:g.67771182G>A	GRCh37
NC_000011.8:g.67527758G>A	NCBI36
NG_007581.1:g.5412C>T , LRG_123:g.5412C>T
NG_012282.1:g.135G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000530138.4:n.247C>T
ENST00000531152.3:n.358C>T
ENST00000533424.6:n.196C>T
ENST00000227471.7:c.183C>T MANE Select	ENSP00000227471.3:p.Leu61=
ENST00000227471.6:c.183C>T	ENSP00000227471.3:p.Leu61=
ENST00000524455.5:c.183C>T	ENSP00000434294.1:p.Leu61=
ENST00000528423.1:c.-31C>T	ENSP00000437195.1:n.-31C>T
ENST00000530138.3:n.247C>T
ENST00000531152.2:n.358C>T
ENST00000533424.5:n.196C>T
ENST00000622364.4:n.181C>T
NM_030930.3:c.183C>T	NP_112192.2:p.Leu61=
XM_011545291.2:c.-443C>T	XP_011543593.1:n.-443C>T
NM_030930.4:c.183C>T MANE Select	NP_112192.2:p.Leu61=