Canonical Allele Identifier: CA10307993

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 1058934
• ClinVar RCV Id: RCV001368126
• dbSNP Id: rs755654925
• ExAC: 22:50659487 G / A
• gnomAD v2: 22-50659487-G-A
• gnomAD v3: 22-50221058-G-A
• gnomAD v4: 22-50221058-G-A
• MyVariant Identifiers: chr22:g.50659487G>A (hg19) ; chr22:g.50221058G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221058G>A , CM000684.2:g.50221058G>A	GRCh38
NC_000022.10:g.50659487G>A , CM000684.1:g.50659487G>A	GRCh37
NC_000022.9:g.49001614G>A	NCBI36
NG_032160.1:g.28914C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248846.10:c.3301C>T MANE Select	ENSP00000248846.5:p.Arg1101Trp
ENST00000248846.9:c.3301C>T	ENSP00000248846.5:p.Arg1101Trp
ENST00000439308.6:c.3301C>T	ENSP00000397387.2:p.Arg1101Trp
ENST00000491449.5:n.1608C>T
ENST00000498611.5:n.3617+217C>T
NM_020461.3:c.3301C>T	NP_065194.2:p.Arg1101Trp
XR_938347.1:n.3866C>T
XR_938348.1:n.3049+970C>T
XR_001755343.2:n.3870C>T
XR_001755344.2:n.3870C>T
XR_002958720.1:n.3053+970C>T
XR_938347.2:n.3870C>T
NM_020461.4:c.3301C>T MANE Select	NP_065194.3:p.Arg1101Trp