Canonical Allele Identifier: CA10307882

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 949615
• ClinVar RCV Id: RCV001221111 ; RCV002562519
• dbSNP Id: rs113811007
• ExAC: 22:50659163 G / A
• gnomAD v2: 22-50659163-G-A
• gnomAD v3: 22-50220734-G-A
• gnomAD v4: 22-50220734-G-A
• MyVariant Identifiers: chr22:g.50659163G>A (hg19) ; chr22:g.50220734G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220734G>A , CM000684.2:g.50220734G>A	GRCh38
NC_000022.10:g.50659163G>A , CM000684.1:g.50659163G>A	GRCh37
NC_000022.9:g.49001290G>A	NCBI36
NG_032160.1:g.29238C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3625C>T MANE Select	ENSP00000248846.5:p.Arg1209Trp
ENST00000248846.9:c.3625C>T	ENSP00000248846.5:p.Arg1209Trp
ENST00000439308.6:c.3625C>T	ENSP00000397387.2:p.Arg1209Trp
ENST00000491449.5:n.1932C>T
ENST00000498611.5:n.3617+541C>T
NM_020461.3:c.3625C>T	NP_065194.2:p.Arg1209Trp
XR_938347.1:n.4190C>T
XR_938348.1:n.3050-719C>T
XR_001755343.2:n.4194C>T
XR_001755344.2:n.4194C>T
XR_002958720.1:n.3054-719C>T
XR_938347.2:n.4194C>T
NM_020461.4:c.3625C>T MANE Select	NP_065194.3:p.Arg1209Trp