Canonical Allele Identifier: CA412183971

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50221096-A-G
• MyVariant Identifiers: chr22:g.50659525A>G (hg19) ; chr22:g.50221096A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221096A>G , CM000684.2:g.50221096A>G	GRCh38
NC_000022.10:g.50659525A>G , CM000684.1:g.50659525A>G	GRCh37
NC_000022.9:g.49001652A>G	NCBI36
NG_032160.1:g.28876T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3263T>C MANE Select	ENSP00000248846.5:p.Ile1088Thr
ENST00000248846.9:c.3263T>C	ENSP00000248846.5:p.Ile1088Thr
ENST00000439308.6:c.3263T>C	ENSP00000397387.2:p.Ile1088Thr
ENST00000491449.5:n.1570T>C
ENST00000498611.5:n.3617+179T>C
NM_020461.3:c.3263T>C	NP_065194.2:p.Ile1088Thr
XR_938347.1:n.3828T>C
XR_938348.1:n.3049+932T>C
XR_001755343.2:n.3832T>C
XR_001755344.2:n.3832T>C
XR_002958720.1:n.3053+932T>C
XR_938347.2:n.3832T>C
NM_020461.4:c.3263T>C MANE Select	NP_065194.3:p.Ile1088Thr